Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.664879A= | CA1432854126 | PDE6B | c.2130-2A= (n.2130-2A=) c.1293-2A= (n.1293-2A=) n.500-2A= c.210-2A= (n.210-2A=) c.2349-2A= (n.2349-2A=) c.1335-2A= (n.1335-2A=) c.1059-2A= (n.1059-2A=) c.975-2A= (n.975-2A=) | |
4 | g.664879A>C | CA355919579 | PDE6B | c.2130-2A>C (n.2130-2A>C) c.1293-2A>C (n.1293-2A>C) n.500-2A>C c.210-2A>C (n.210-2A>C) c.2349-2A>C (n.2349-2A>C) c.1335-2A>C (n.1335-2A>C) c.1059-2A>C (n.1059-2A>C) c.975-2A>C (n.975-2A>C) | dbSNP |
4 | g.664879A>G | CA355919578 | PDE6B | c.2130-2A>G (n.2130-2A>G) c.1293-2A>G (n.1293-2A>G) n.500-2A>G c.210-2A>G (n.210-2A>G) c.2349-2A>G (n.2349-2A>G) c.1335-2A>G (n.1335-2A>G) c.1059-2A>G (n.1059-2A>G) c.975-2A>G (n.975-2A>G) | |
4 | g.664879A>T | CA355919577 | PDE6B | c.2130-2A>T (n.2130-2A>T) c.1293-2A>T (n.1293-2A>T) n.500-2A>T c.210-2A>T (n.210-2A>T) c.2349-2A>T (n.2349-2A>T) c.1335-2A>T (n.1335-2A>T) c.1059-2A>T (n.1059-2A>T) c.975-2A>T (n.975-2A>T) | |
4 | g.664880G>A | CA2794906 | PDE6B | c.2130-1G>A (n.2130-1G>A) c.1293-1G>A (n.1293-1G>A) n.500-1G>A c.210-1G>A (n.210-1G>A) c.2349-1G>A (n.2349-1G>A) c.1335-1G>A (n.1335-1G>A) c.1059-1G>A (n.1059-1G>A) c.975-1G>A (n.975-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664880G>C | CA355919580 | PDE6B | c.2130-1G>C (n.2130-1G>C) c.1293-1G>C (n.1293-1G>C) n.500-1G>C c.210-1G>C (n.210-1G>C) c.2349-1G>C (n.2349-1G>C) c.1335-1G>C (n.1335-1G>C) c.1059-1G>C (n.1059-1G>C) c.975-1G>C (n.975-1G>C) | |
4 | g.664880G= | CA1432854132 | PDE6B | c.2130-1G= (n.2130-1G=) c.1293-1G= (n.1293-1G=) n.500-1G= c.210-1G= (n.210-1G=) c.2349-1G= (n.2349-1G=) c.1335-1G= (n.1335-1G=) c.1059-1G= (n.1059-1G=) c.975-1G= (n.975-1G=) | |
4 | g.664880G>T | CA355919581 | PDE6B | c.2130-1G>T (n.2130-1G>T) c.1293-1G>T (n.1293-1G>T) n.500-1G>T c.210-1G>T (n.210-1G>T) c.2349-1G>T (n.2349-1G>T) c.1335-1G>T (n.1335-1G>T) c.1059-1G>T (n.1059-1G>T) c.975-1G>T (n.975-1G>T) | |
4 | g.664882del | CA2578009817 | PDE6B | c.2131del c.1294del n.501del c.211del c.2350del c.1336del c.1060del c.976del | |
4 | g.664881G>A | CA355919582 | PDE6B | c.2130G>A (p.Met710Ile) c.1293G>A (p.Met431Ile) n.500G>A c.210G>A (p.Met70Ile) c.2349G>A (p.Met783Ile) c.1335G>A (p.Met445Ile) c.1059G>A (p.Met353Ile) c.975G>A (p.Met325Ile) | gnomAD v4 |
4 | g.664881G>C | CA355919583 | PDE6B | c.2130G>C (p.Met710Ile) c.1293G>C (p.Met431Ile) n.500G>C c.210G>C (p.Met70Ile) c.2349G>C (p.Met783Ile) c.1335G>C (p.Met445Ile) c.1059G>C (p.Met353Ile) c.975G>C (p.Met325Ile) | gnomAD v3 gnomAD v4 |
4 | g.664881G>T | CA355919584 | PDE6B | c.2130G>T (p.Met710Ile) c.1293G>T (p.Met431Ile) n.500G>T c.210G>T (p.Met70Ile) c.2349G>T (p.Met783Ile) c.1335G>T (p.Met445Ile) c.1059G>T (p.Met353Ile) c.975G>T (p.Met325Ile) | |
4 | g.664882G>A | CA355919585 | PDE6B | c.2131G>A (p.Ala711Thr) c.1294G>A (p.Ala432Thr) n.501G>A c.211G>A (p.Ala71Thr) c.2350G>A (p.Ala784Thr) c.1336G>A (p.Ala446Thr) c.1060G>A (p.Ala354Thr) c.976G>A (p.Ala326Thr) | |
4 | g.664882G>C | CA355919587 | PDE6B | c.2131G>C (p.Ala711Pro) c.1294G>C (p.Ala432Pro) n.501G>C c.211G>C (p.Ala71Pro) c.2350G>C (p.Ala784Pro) c.1336G>C (p.Ala446Pro) c.1060G>C (p.Ala354Pro) c.976G>C (p.Ala326Pro) | |
4 | g.664882G= | CA1432854140 | PDE6B | c.2131G= (p.Ala711=) c.1294G= (p.Ala432=) n.501G= c.211G= (p.Ala71=) c.2350G= (p.Ala784=) c.1336G= (p.Ala446=) c.1060G= (p.Ala354=) c.976G= (p.Ala326=) | |
4 | g.664882G>T | CA355919586 | PDE6B | c.2131G>T (p.Ala711Ser) c.1294G>T (p.Ala432Ser) n.501G>T c.211G>T (p.Ala71Ser) c.2350G>T (p.Ala784Ser) c.1336G>T (p.Ala446Ser) c.1060G>T (p.Ala354Ser) c.976G>T (p.Ala326Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664883C>A | CA355919588 | PDE6B | c.2132C>A (p.Ala711Asp) c.1295C>A (p.Ala432Asp) n.502C>A c.212C>A (p.Ala71Asp) c.2351C>A (p.Ala784Asp) c.1337C>A (p.Ala446Asp) c.1061C>A (p.Ala354Asp) c.977C>A (p.Ala326Asp) | |
4 | g.664883C= | CA1432854146 | PDE6B | c.2132C= (p.Ala711=) c.1295C= (p.Ala432=) n.502C= c.212C= (p.Ala71=) c.2351C= (p.Ala784=) c.1337C= (p.Ala446=) c.1061C= (p.Ala354=) c.977C= (p.Ala326=) | |
4 | g.664883C>G | CA355919589 | PDE6B | c.2132C>G (p.Ala711Gly) c.1295C>G (p.Ala432Gly) n.502C>G c.212C>G (p.Ala71Gly) c.2351C>G (p.Ala784Gly) c.1337C>G (p.Ala446Gly) c.1061C>G (p.Ala354Gly) c.977C>G (p.Ala326Gly) | |
4 | g.664883C>T | CA355919590 | PDE6B | c.2132C>T (p.Ala711Val) c.1295C>T (p.Ala432Val) n.502C>T c.212C>T (p.Ala71Val) c.2351C>T (p.Ala784Val) c.1337C>T (p.Ala446Val) c.1061C>T (p.Ala354Val) c.977C>T (p.Ala326Val) | dbSNP COSMIC |
4 | g.664884del | CA2669420252 | PDE6B | c.2133del (p.Met712Ter) c.1296del (p.Met433Ter) n.503del c.213del (p.Met72Ter) c.2352del (p.Met785Ter) c.1338del (p.Met447Ter) c.1062del (p.Met355Ter) c.978del (p.Met327Ter) | gnomAD v4 |
4 | g.664884C>A | CA437901000 | PDE6B | c.2133C>A (p.Ala711=) c.1296C>A (p.Ala432=) n.503C>A c.213C>A (p.Ala71=) c.2352C>A (p.Ala784=) c.1338C>A (p.Ala446=) c.1062C>A (p.Ala354=) c.978C>A (p.Ala326=) | |
4 | g.664884C= | CA1432854152 | PDE6B | c.2133C= (p.Ala711=) c.1296C= (p.Ala432=) n.503C= c.213C= (p.Ala71=) c.2352C= (p.Ala784=) c.1338C= (p.Ala446=) c.1062C= (p.Ala354=) c.978C= (p.Ala326=) | |
4 | g.664884C>G | CA91092562 | PDE6B | c.2133C>G (p.Ala711=) c.1296C>G (p.Ala432=) n.503C>G c.213C>G (p.Ala71=) c.2352C>G (p.Ala784=) c.1338C>G (p.Ala446=) c.1062C>G (p.Ala354=) c.978C>G (p.Ala326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664884C>T | CA437901001 | PDE6B | c.2133C>T (p.Ala711=) c.1296C>T (p.Ala432=) n.503C>T c.213C>T (p.Ala71=) c.2352C>T (p.Ala784=) c.1338C>T (p.Ala446=) c.1062C>T (p.Ala354=) c.978C>T (p.Ala326=) | gnomAD v4 |
4 | g.664885A= | CA1432854157 | PDE6B | c.2134A= (p.Met712=) c.1297A= (p.Met433=) n.504A= c.214A= (p.Met72=) c.2353A= (p.Met785=) c.1339A= (p.Met447=) c.1063A= (p.Met355=) c.979A= (p.Met327=) | |
4 | g.664885A>C | CA355919591 | PDE6B | c.2134A>C (p.Met712Leu) c.1297A>C (p.Met433Leu) n.504A>C c.214A>C (p.Met72Leu) c.2353A>C (p.Met785Leu) c.1339A>C (p.Met447Leu) c.1063A>C (p.Met355Leu) c.979A>C (p.Met327Leu) | |
4 | g.664885A>G | CA355919592 | PDE6B | c.2134A>G (p.Met712Val) c.1297A>G (p.Met433Val) n.504A>G c.214A>G (p.Met72Val) c.2353A>G (p.Met785Val) c.1339A>G (p.Met447Val) c.1063A>G (p.Met355Val) c.979A>G (p.Met327Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664885A>T | CA355919593 | PDE6B | c.2134A>T (p.Met712Leu) c.1297A>T (p.Met433Leu) n.504A>T c.214A>T (p.Met72Leu) c.2353A>T (p.Met785Leu) c.1339A>T (p.Met447Leu) c.1063A>T (p.Met355Leu) c.979A>T (p.Met327Leu) | |
4 | g.664886T>A | CA355919594 | PDE6B | c.2135T>A (p.Met712Lys) c.1298T>A (p.Met433Lys) n.505T>A c.215T>A (p.Met72Lys) c.2354T>A (p.Met785Lys) c.1340T>A (p.Met447Lys) c.1064T>A (p.Met355Lys) c.980T>A (p.Met327Lys) | |
4 | g.664886T>C | CA355919595 | PDE6B | c.2135T>C (p.Met712Thr) c.1298T>C (p.Met433Thr) n.505T>C c.215T>C (p.Met72Thr) c.2354T>C (p.Met785Thr) c.1340T>C (p.Met447Thr) c.1064T>C (p.Met355Thr) c.980T>C (p.Met327Thr) | |
4 | g.664886T>G | CA355919596 | PDE6B | c.2135T>G (p.Met712Arg) c.1298T>G (p.Met433Arg) n.505T>G c.215T>G (p.Met72Arg) c.2354T>G (p.Met785Arg) c.1340T>G (p.Met447Arg) c.1064T>G (p.Met355Arg) c.980T>G (p.Met327Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664886T= | CA1432854161 | PDE6B | c.2135T= (p.Met712=) c.1298T= (p.Met433=) n.505T= c.215T= (p.Met72=) c.2354T= (p.Met785=) c.1340T= (p.Met447=) c.1064T= (p.Met355=) c.980T= (p.Met327=) | |
4 | g.664887G>A | CA355919597 | PDE6B | c.2136G>A (p.Met712Ile) c.1299G>A (p.Met433Ile) n.506G>A c.216G>A (p.Met72Ile) c.2355G>A (p.Met785Ile) c.1341G>A (p.Met447Ile) c.1065G>A (p.Met355Ile) c.981G>A (p.Met327Ile) | dbSNP |
4 | g.664887G>C | CA355919598 | PDE6B | c.2136G>C (p.Met712Ile) c.1299G>C (p.Met433Ile) n.506G>C c.216G>C (p.Met72Ile) c.2355G>C (p.Met785Ile) c.1341G>C (p.Met447Ile) c.1065G>C (p.Met355Ile) c.981G>C (p.Met327Ile) | |
4 | g.664887G= | CA1432854171 | PDE6B | c.2136G= (p.Met712=) c.1299G= (p.Met433=) n.506G= c.216G= (p.Met72=) c.2355G= (p.Met785=) c.1341G= (p.Met447=) c.1065G= (p.Met355=) c.981G= (p.Met327=) | |
4 | g.664887G>T | CA355919599 | PDE6B | c.2136G>T (p.Met712Ile) c.1299G>T (p.Met433Ile) n.506G>T c.216G>T (p.Met72Ile) c.2355G>T (p.Met785Ile) c.1341G>T (p.Met447Ile) c.1065G>T (p.Met355Ile) c.981G>T (p.Met327Ile) | |
4 | g.664888A>C | CA355919600 | PDE6B | c.2137A>C (p.Met713Leu) c.1300A>C (p.Met434Leu) n.507A>C c.217A>C (p.Met73Leu) c.2356A>C (p.Met786Leu) c.1342A>C (p.Met448Leu) c.1066A>C (p.Met356Leu) c.982A>C (p.Met328Leu) | |
4 | g.664888A>G | CA355919602 | PDE6B | c.2137A>G (p.Met713Val) c.1300A>G (p.Met434Val) n.507A>G c.217A>G (p.Met73Val) c.2356A>G (p.Met786Val) c.1342A>G (p.Met448Val) c.1066A>G (p.Met356Val) c.982A>G (p.Met328Val) | |
4 | g.664888A>T | CA355919601 | PDE6B | c.2137A>T (p.Met713Leu) c.1300A>T (p.Met434Leu) n.507A>T c.217A>T (p.Met73Leu) c.2356A>T (p.Met786Leu) c.1342A>T (p.Met448Leu) c.1066A>T (p.Met356Leu) c.982A>T (p.Met328Leu) | |
4 | g.664889T>A | CA355919603 | PDE6B | c.2138T>A (p.Met713Lys) c.1301T>A (p.Met434Lys) n.508T>A c.218T>A (p.Met73Lys) c.2357T>A (p.Met786Lys) c.1343T>A (p.Met448Lys) c.1067T>A (p.Met356Lys) c.983T>A (p.Met328Lys) | ClinVar dbSNP |
4 | g.664889T>C | CA2794907 | PDE6B | c.2138T>C (p.Met713Thr) c.1301T>C (p.Met434Thr) n.508T>C c.218T>C (p.Met73Thr) c.2357T>C (p.Met786Thr) c.1343T>C (p.Met448Thr) c.1067T>C (p.Met356Thr) c.983T>C (p.Met328Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664889T>G | CA355919604 | PDE6B | c.2138T>G (p.Met713Arg) c.1301T>G (p.Met434Arg) n.508T>G c.218T>G (p.Met73Arg) c.2357T>G (p.Met786Arg) c.1343T>G (p.Met448Arg) c.1067T>G (p.Met356Arg) c.983T>G (p.Met328Arg) | |
4 | g.664889T= | CA1432854174 | PDE6B | c.2138T= (p.Met713=) c.1301T= (p.Met434=) n.508T= c.218T= (p.Met73=) c.2357T= (p.Met786=) c.1343T= (p.Met448=) c.1067T= (p.Met356=) c.983T= (p.Met328=) | |
4 | g.664890G>A | CA355919605 | PDE6B | c.2139G>A (p.Met713Ile) c.1302G>A (p.Met434Ile) n.509G>A c.219G>A (p.Met73Ile) c.2358G>A (p.Met786Ile) c.1344G>A (p.Met448Ile) c.1068G>A (p.Met356Ile) c.984G>A (p.Met328Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.664890G>C | CA355919606 | PDE6B | c.2139G>C (p.Met713Ile) c.1302G>C (p.Met434Ile) n.509G>C c.219G>C (p.Met73Ile) c.2358G>C (p.Met786Ile) c.1344G>C (p.Met448Ile) c.1068G>C (p.Met356Ile) c.984G>C (p.Met328Ile) | COSMIC |
4 | g.664890G= | CA1432854182 | PDE6B | c.2139G= (p.Met713=) c.1302G= (p.Met434=) n.509G= c.219G= (p.Met73=) c.2358G= (p.Met786=) c.1344G= (p.Met448=) c.1068G= (p.Met356=) c.984G= (p.Met328=) | |
4 | g.664890G>T | CA355919607 | PDE6B | c.2139G>T (p.Met713Ile) c.1302G>T (p.Met434Ile) n.509G>T c.219G>T (p.Met73Ile) c.2358G>T (p.Met786Ile) c.1344G>T (p.Met448Ile) c.1068G>T (p.Met356Ile) c.984G>T (p.Met328Ile) | |
4 | g.664891A= | CA1432854191 | PDE6B | c.2140A= (p.Met714=) c.1303A= (p.Met435=) n.510A= c.220A= (p.Met74=) c.2359A= (p.Met787=) c.1345A= (p.Met449=) c.1069A= (p.Met357=) c.985A= (p.Met329=) | |
4 | g.664891A>C | CA355919608 | PDE6B | c.2140A>C (p.Met714Leu) c.1303A>C (p.Met435Leu) n.510A>C c.220A>C (p.Met74Leu) c.2359A>C (p.Met787Leu) c.1345A>C (p.Met449Leu) c.1069A>C (p.Met357Leu) c.985A>C (p.Met329Leu) | |
4 | g.664891A>G | CA355919609 | PDE6B | c.2140A>G (p.Met714Val) c.1303A>G (p.Met435Val) n.510A>G c.220A>G (p.Met74Val) c.2359A>G (p.Met787Val) c.1345A>G (p.Met449Val) c.1069A>G (p.Met357Val) c.985A>G (p.Met329Val) | |
4 | g.664891A>T | CA2794908 | PDE6B | c.2140A>T (p.Met714Leu) c.1303A>T (p.Met435Leu) n.510A>T c.220A>T (p.Met74Leu) c.2359A>T (p.Met787Leu) c.1345A>T (p.Met449Leu) c.1069A>T (p.Met357Leu) c.985A>T (p.Met329Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664892T>A | CA355919610 | PDE6B | c.2141T>A (p.Met714Lys) c.1304T>A (p.Met435Lys) n.511T>A c.221T>A (p.Met74Lys) c.2360T>A (p.Met787Lys) c.1346T>A (p.Met449Lys) c.1070T>A (p.Met357Lys) c.986T>A (p.Met329Lys) | |
4 | g.664892T>C | CA355919611 | PDE6B | c.2141T>C (p.Met714Thr) c.1304T>C (p.Met435Thr) n.511T>C c.221T>C (p.Met74Thr) c.2360T>C (p.Met787Thr) c.1346T>C (p.Met449Thr) c.1070T>C (p.Met357Thr) c.986T>C (p.Met329Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664892T>G | CA355919612 | PDE6B | c.2141T>G (p.Met714Arg) c.1304T>G (p.Met435Arg) n.511T>G c.221T>G (p.Met74Arg) c.2360T>G (p.Met787Arg) c.1346T>G (p.Met449Arg) c.1070T>G (p.Met357Arg) c.986T>G (p.Met329Arg) | |
4 | g.664892T= | CA1432854201 | PDE6B | c.2141T= (p.Met714=) c.1304T= (p.Met435=) n.511T= c.221T= (p.Met74=) c.2360T= (p.Met787=) c.1346T= (p.Met449=) c.1070T= (p.Met357=) c.986T= (p.Met329=) | |
4 | g.664893G>A | CA355919615 | PDE6B | c.2142G>A (p.Met714Ile) c.1305G>A (p.Met435Ile) n.512G>A c.222G>A (p.Met74Ile) c.2361G>A (p.Met787Ile) c.1347G>A (p.Met449Ile) c.1071G>A (p.Met357Ile) c.987G>A (p.Met329Ile) | gnomAD v4 |
4 | g.664893G>C | CA355919613 | PDE6B | c.2142G>C (p.Met714Ile) c.1305G>C (p.Met435Ile) n.512G>C c.222G>C (p.Met74Ile) c.2361G>C (p.Met787Ile) c.1347G>C (p.Met449Ile) c.1071G>C (p.Met357Ile) c.987G>C (p.Met329Ile) | |
4 | g.664893G>T | CA355919614 | PDE6B | c.2142G>T (p.Met714Ile) c.1305G>T (p.Met435Ile) n.512G>T c.222G>T (p.Met74Ile) c.2361G>T (p.Met787Ile) c.1347G>T (p.Met449Ile) c.1071G>T (p.Met357Ile) c.987G>T (p.Met329Ile) | |
4 | g.664893_664895dup | CA1432854207 | PDE6B | c.2142_2144dup (p.Thr715_Ala716insThr) c.1305_1307dup (p.Thr436_Ala437insThr) n.512_514dup c.222_224dup (p.Thr75_Ala76insThr) c.2361_2363dup (p.Thr788_Ala789insThr) c.1347_1349dup (p.Thr450_Ala451insThr) c.1071_1073dup (p.Thr358_Ala359insThr) c.987_989dup (p.Thr330_Ala331insThr) | dbSNP gnomAD v4 |
4 | g.664894A= | CA1432854209 | PDE6B | c.2143A= (p.Thr715=) c.1306A= (p.Thr436=) n.513A= c.223A= (p.Thr75=) c.2362A= (p.Thr788=) c.1348A= (p.Thr450=) c.1072A= (p.Thr358=) c.988A= (p.Thr330=) | |
4 | g.664894A>C | CA355919616 | PDE6B | c.2143A>C (p.Thr715Pro) c.1306A>C (p.Thr436Pro) n.513A>C c.223A>C (p.Thr75Pro) c.2362A>C (p.Thr788Pro) c.1348A>C (p.Thr450Pro) c.1072A>C (p.Thr358Pro) c.988A>C (p.Thr330Pro) | |
4 | g.664894A>G | CA355919618 | PDE6B | c.2143A>G (p.Thr715Ala) c.1306A>G (p.Thr436Ala) n.513A>G c.223A>G (p.Thr75Ala) c.2362A>G (p.Thr788Ala) c.1348A>G (p.Thr450Ala) c.1072A>G (p.Thr358Ala) c.988A>G (p.Thr330Ala) | dbSNP |
4 | g.664894A>T | CA355919619 | PDE6B | c.2143A>T (p.Thr715Ser) c.1306A>T (p.Thr436Ser) n.513A>T c.223A>T (p.Thr75Ser) c.2362A>T (p.Thr788Ser) c.1348A>T (p.Thr450Ser) c.1072A>T (p.Thr358Ser) c.988A>T (p.Thr330Ser) | |
4 | g.664895C>A | CA355919621 | PDE6B | c.2144C>A (p.Thr715Lys) c.1307C>A (p.Thr436Lys) n.514C>A c.224C>A (p.Thr75Lys) c.2363C>A (p.Thr788Lys) c.1349C>A (p.Thr450Lys) c.1073C>A (p.Thr358Lys) c.989C>A (p.Thr330Lys) | |
4 | g.664895C= | CA1432854215 | PDE6B | c.2144C= (p.Thr715=) c.1307C= (p.Thr436=) n.514C= c.224C= (p.Thr75=) c.2363C= (p.Thr788=) c.1349C= (p.Thr450=) c.1073C= (p.Thr358=) c.989C= (p.Thr330=) | |
4 | g.664895C>G | CA355919623 | PDE6B | c.2144C>G (p.Thr715Arg) c.1307C>G (p.Thr436Arg) n.514C>G c.224C>G (p.Thr75Arg) c.2363C>G (p.Thr788Arg) c.1349C>G (p.Thr450Arg) c.1073C>G (p.Thr358Arg) c.989C>G (p.Thr330Arg) | |
4 | g.664895C>T | CA355919624 | PDE6B | c.2144C>T (p.Thr715Ile) c.1307C>T (p.Thr436Ile) n.514C>T c.224C>T (p.Thr75Ile) c.2363C>T (p.Thr788Ile) c.1349C>T (p.Thr450Ile) c.1073C>T (p.Thr358Ile) c.989C>T (p.Thr330Ile) | dbSNP gnomAD v4 |
4 | g.664896A>C | CA437901009 | PDE6B | c.2145A>C (p.Thr715=) c.1308A>C (p.Thr436=) n.515A>C c.225A>C (p.Thr75=) c.2364A>C (p.Thr788=) c.1350A>C (p.Thr450=) c.1074A>C (p.Thr358=) c.990A>C (p.Thr330=) | |
4 | g.664896A>G | CA437901008 | PDE6B | c.2145A>G (p.Thr715=) c.1308A>G (p.Thr436=) n.515A>G c.225A>G (p.Thr75=) c.2364A>G (p.Thr788=) c.1350A>G (p.Thr450=) c.1074A>G (p.Thr358=) c.990A>G (p.Thr330=) | |
4 | g.664896A>T | CA437901010 | PDE6B | c.2145A>T (p.Thr715=) c.1308A>T (p.Thr436=) n.515A>T c.225A>T (p.Thr75=) c.2364A>T (p.Thr788=) c.1350A>T (p.Thr450=) c.1074A>T (p.Thr358=) c.990A>T (p.Thr330=) | |
4 | g.664897G>A | CA355919626 | PDE6B | c.2146G>A (p.Ala716Thr) c.1309G>A (p.Ala437Thr) n.516G>A c.226G>A (p.Ala76Thr) c.2365G>A (p.Ala789Thr) c.1351G>A (p.Ala451Thr) c.1075G>A (p.Ala359Thr) c.991G>A (p.Ala331Thr) | |
4 | g.664897G>C | CA355919628 | PDE6B | c.2146G>C (p.Ala716Pro) c.1309G>C (p.Ala437Pro) n.516G>C c.226G>C (p.Ala76Pro) c.2365G>C (p.Ala789Pro) c.1351G>C (p.Ala451Pro) c.1075G>C (p.Ala359Pro) c.991G>C (p.Ala331Pro) | gnomAD v4 |
4 | g.664897G>T | CA355919630 | PDE6B | c.2146G>T (p.Ala716Ser) c.1309G>T (p.Ala437Ser) n.516G>T c.226G>T (p.Ala76Ser) c.2365G>T (p.Ala789Ser) c.1351G>T (p.Ala451Ser) c.1075G>T (p.Ala359Ser) c.991G>T (p.Ala331Ser) | |
4 | g.664898C>A | CA355919632 | PDE6B | c.2147C>A (p.Ala716Asp) c.1310C>A (p.Ala437Asp) n.517C>A c.227C>A (p.Ala76Asp) c.2366C>A (p.Ala789Asp) c.1352C>A (p.Ala451Asp) c.1076C>A (p.Ala359Asp) c.992C>A (p.Ala331Asp) | |
4 | g.664898C= | CA1432854219 | PDE6B | c.2147C= (p.Ala716=) c.1310C= (p.Ala437=) n.517C= c.227C= (p.Ala76=) c.2366C= (p.Ala789=) c.1352C= (p.Ala451=) c.1076C= (p.Ala359=) c.992C= (p.Ala331=) | |
4 | g.664898C>G | CA355919634 | PDE6B | c.2147C>G (p.Ala716Gly) c.1310C>G (p.Ala437Gly) n.517C>G c.227C>G (p.Ala76Gly) c.2366C>G (p.Ala789Gly) c.1352C>G (p.Ala451Gly) c.1076C>G (p.Ala359Gly) c.992C>G (p.Ala331Gly) | |
4 | g.664898C>T | CA2794909 | PDE6B | c.2147C>T (p.Ala716Val) c.1310C>T (p.Ala437Val) n.517C>T c.227C>T (p.Ala76Val) c.2366C>T (p.Ala789Val) c.1352C>T (p.Ala451Val) c.1076C>T (p.Ala359Val) c.992C>T (p.Ala331Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664899C>A | CA437901019 | PDE6B | c.2148C>A (p.Ala716=) c.1311C>A (p.Ala437=) n.518C>A c.228C>A (p.Ala76=) c.2367C>A (p.Ala789=) c.1353C>A (p.Ala451=) c.1077C>A (p.Ala359=) c.993C>A (p.Ala331=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664899C= | CA1432854229 | PDE6B | c.2148C= (p.Ala716=) c.1311C= (p.Ala437=) n.518C= c.228C= (p.Ala76=) c.2367C= (p.Ala789=) c.1353C= (p.Ala451=) c.1077C= (p.Ala359=) c.993C= (p.Ala331=) | |
4 | g.664899C>G | CA437901017 | PDE6B | c.2148C>G (p.Ala716=) c.1311C>G (p.Ala437=) n.518C>G c.228C>G (p.Ala76=) c.2367C>G (p.Ala789=) c.1353C>G (p.Ala451=) c.1077C>G (p.Ala359=) c.993C>G (p.Ala331=) | |
4 | g.664899C>T | CA437901018 | PDE6B | c.2148C>T (p.Ala716=) c.1311C>T (p.Ala437=) n.518C>T c.228C>T (p.Ala76=) c.2367C>T (p.Ala789=) c.1353C>T (p.Ala451=) c.1077C>T (p.Ala359=) c.993C>T (p.Ala331=) | |
4 | g.664900T>A | CA355919637 | PDE6B | c.2149T>A (p.Cys717Ser) c.1312T>A (p.Cys438Ser) n.519T>A c.229T>A (p.Cys77Ser) c.2368T>A (p.Cys790Ser) c.1354T>A (p.Cys452Ser) c.1078T>A (p.Cys360Ser) c.994T>A (p.Cys332Ser) | |
4 | g.664900T>C | CA355919639 | PDE6B | c.2149T>C (p.Cys717Arg) c.1312T>C (p.Cys438Arg) n.519T>C c.229T>C (p.Cys77Arg) c.2368T>C (p.Cys790Arg) c.1354T>C (p.Cys452Arg) c.1078T>C (p.Cys360Arg) c.994T>C (p.Cys332Arg) | |
4 | g.664900T>G | CA355919635 | PDE6B | c.2149T>G (p.Cys717Gly) c.1312T>G (p.Cys438Gly) n.519T>G c.229T>G (p.Cys77Gly) c.2368T>G (p.Cys790Gly) c.1354T>G (p.Cys452Gly) c.1078T>G (p.Cys360Gly) c.994T>G (p.Cys332Gly) | |
4 | g.664901G>A | CA2794910 | PDE6B | c.2150G>A (p.Cys717Tyr) c.1313G>A (p.Cys438Tyr) n.520G>A c.230G>A (p.Cys77Tyr) c.2369G>A (p.Cys790Tyr) c.1355G>A (p.Cys452Tyr) c.1079G>A (p.Cys360Tyr) c.995G>A (p.Cys332Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664901G>C | CA355919642 | PDE6B | c.2150G>C (p.Cys717Ser) c.1313G>C (p.Cys438Ser) n.520G>C c.230G>C (p.Cys77Ser) c.2369G>C (p.Cys790Ser) c.1355G>C (p.Cys452Ser) c.1079G>C (p.Cys360Ser) c.995G>C (p.Cys332Ser) | |
4 | g.664901G= | CA1432854234 | PDE6B | c.2150G= (p.Cys717=) c.1313G= (p.Cys438=) n.520G= c.230G= (p.Cys77=) c.2369G= (p.Cys790=) c.1355G= (p.Cys452=) c.1079G= (p.Cys360=) c.995G= (p.Cys332=) | |
4 | g.664901G>T | CA355919644 | PDE6B | c.2150G>T (p.Cys717Phe) c.1313G>T (p.Cys438Phe) n.520G>T c.230G>T (p.Cys77Phe) c.2369G>T (p.Cys790Phe) c.1355G>T (p.Cys452Phe) c.1079G>T (p.Cys360Phe) c.995G>T (p.Cys332Phe) | |
4 | g.664902C>A | CA355919647 | PDE6B | c.2151C>A (p.Cys717Ter) c.1314C>A (p.Cys438Ter) n.521C>A c.231C>A (p.Cys77Ter) c.2370C>A (p.Cys790Ter) c.1356C>A (p.Cys452Ter) c.1080C>A (p.Cys360Ter) c.996C>A (p.Cys332Ter) | |
4 | g.664902C= | CA1432854237 | PDE6B | c.2151C= (p.Cys717=) c.1314C= (p.Cys438=) n.521C= c.231C= (p.Cys77=) c.2370C= (p.Cys790=) c.1356C= (p.Cys452=) c.1080C= (p.Cys360=) c.996C= (p.Cys332=) | |
4 | g.664902C>G | CA355919649 | PDE6B | c.2151C>G (p.Cys717Trp) c.1314C>G (p.Cys438Trp) n.521C>G c.231C>G (p.Cys77Trp) c.2370C>G (p.Cys790Trp) c.1356C>G (p.Cys452Trp) c.1080C>G (p.Cys360Trp) c.996C>G (p.Cys332Trp) | |
4 | g.664902C>T | CA2794911 | PDE6B | c.2151C>T (p.Cys717=) c.1314C>T (p.Cys438=) n.521C>T c.231C>T (p.Cys77=) c.2370C>T (p.Cys790=) c.1356C>T (p.Cys452=) c.1080C>T (p.Cys360=) c.996C>T (p.Cys332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.664903G>A | CA2794912 | PDE6B | c.2152G>A (p.Asp718Asn) c.1315G>A (p.Asp439Asn) n.522G>A c.232G>A (p.Asp78Asn) c.2371G>A (p.Asp791Asn) c.1357G>A (p.Asp453Asn) c.1081G>A (p.Asp361Asn) c.997G>A (p.Asp333Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664903G>C | CA355919652 | PDE6B | c.2152G>C (p.Asp718His) c.1315G>C (p.Asp439His) n.522G>C c.232G>C (p.Asp78His) c.2371G>C (p.Asp791His) c.1357G>C (p.Asp453His) c.1081G>C (p.Asp361His) c.997G>C (p.Asp333His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664903G= | CA1432854247 | PDE6B | c.2152G= (p.Asp718=) c.1315G= (p.Asp439=) n.522G= c.232G= (p.Asp78=) c.2371G= (p.Asp791=) c.1357G= (p.Asp453=) c.1081G= (p.Asp361=) c.997G= (p.Asp333=) | |
4 | g.664903G>T | CA2794913 | PDE6B | c.2152G>T (p.Asp718Tyr) c.1315G>T (p.Asp439Tyr) n.522G>T c.232G>T (p.Asp78Tyr) c.2371G>T (p.Asp791Tyr) c.1357G>T (p.Asp453Tyr) c.1081G>T (p.Asp361Tyr) c.997G>T (p.Asp333Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664904A>C | CA355919656 | PDE6B | c.2153A>C (p.Asp718Ala) c.1316A>C (p.Asp439Ala) n.523A>C c.233A>C (p.Asp78Ala) c.2372A>C (p.Asp791Ala) c.1358A>C (p.Asp453Ala) c.1082A>C (p.Asp361Ala) c.998A>C (p.Asp333Ala) | |
4 | g.664904A>G | CA355919659 | PDE6B | c.2153A>G (p.Asp718Gly) c.1316A>G (p.Asp439Gly) n.523A>G c.233A>G (p.Asp78Gly) c.2372A>G (p.Asp791Gly) c.1358A>G (p.Asp453Gly) c.1082A>G (p.Asp361Gly) c.998A>G (p.Asp333Gly) | |
4 | g.664904A>T | CA355919657 | PDE6B | c.2153A>T (p.Asp718Val) c.1316A>T (p.Asp439Val) n.523A>T c.233A>T (p.Asp78Val) c.2372A>T (p.Asp791Val) c.1358A>T (p.Asp453Val) c.1082A>T (p.Asp361Val) c.998A>T (p.Asp333Val) | |
4 | g.664905C>A | CA355919661 | PDE6B | c.2154C>A (p.Asp718Glu) c.1317C>A (p.Asp439Glu) n.524C>A c.234C>A (p.Asp78Glu) c.2373C>A (p.Asp791Glu) c.1359C>A (p.Asp453Glu) c.1083C>A (p.Asp361Glu) c.999C>A (p.Asp333Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664905C= | CA1432854267 | PDE6B | c.2154C= (p.Asp718=) c.1317C= (p.Asp439=) n.524C= c.234C= (p.Asp78=) c.2373C= (p.Asp791=) c.1359C= (p.Asp453=) c.1083C= (p.Asp361=) c.999C= (p.Asp333=) | |
4 | g.664905C>G | CA355919662 | PDE6B | c.2154C>G (p.Asp718Glu) c.1317C>G (p.Asp439Glu) n.524C>G c.234C>G (p.Asp78Glu) c.2373C>G (p.Asp791Glu) c.1359C>G (p.Asp453Glu) c.1083C>G (p.Asp361Glu) c.999C>G (p.Asp333Glu) | |
4 | g.664905C>T | CA2794914 | PDE6B | c.2154C>T (p.Asp718=) c.1317C>T (p.Asp439=) n.524C>T c.234C>T (p.Asp78=) c.2373C>T (p.Asp791=) c.1359C>T (p.Asp453=) c.1083C>T (p.Asp361=) c.999C>T (p.Asp333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664906C>A | CA355919664 | PDE6B | c.2155C>A (p.Leu719Met) c.1318C>A (p.Leu440Met) n.525C>A c.235C>A (p.Leu79Met) c.2374C>A (p.Leu792Met) c.1360C>A (p.Leu454Met) c.1084C>A (p.Leu362Met) c.1000C>A (p.Leu334Met) | |
4 | g.664906C>G | CA355919666 | PDE6B | c.2155C>G (p.Leu719Val) c.1318C>G (p.Leu440Val) n.525C>G c.235C>G (p.Leu79Val) c.2374C>G (p.Leu792Val) c.1360C>G (p.Leu454Val) c.1084C>G (p.Leu362Val) c.1000C>G (p.Leu334Val) | gnomAD v4 |
4 | g.664906C>T | CA437901027 | PDE6B | c.2155C>T (p.Leu719=) c.1318C>T (p.Leu440=) n.525C>T c.235C>T (p.Leu79=) c.2374C>T (p.Leu792=) c.1360C>T (p.Leu454=) c.1084C>T (p.Leu362=) c.1000C>T (p.Leu334=) | |
4 | g.664907T>A | CA355919668 | PDE6B | c.2156T>A (p.Leu719Gln) c.1319T>A (p.Leu440Gln) n.526T>A c.236T>A (p.Leu79Gln) c.2375T>A (p.Leu792Gln) c.1361T>A (p.Leu454Gln) c.1085T>A (p.Leu362Gln) c.1001T>A (p.Leu334Gln) | |
4 | g.664907T>C | CA355919671 | PDE6B | c.2156T>C (p.Leu719Pro) c.1319T>C (p.Leu440Pro) n.526T>C c.236T>C (p.Leu79Pro) c.2375T>C (p.Leu792Pro) c.1361T>C (p.Leu454Pro) c.1085T>C (p.Leu362Pro) c.1001T>C (p.Leu334Pro) | dbSNP gnomAD v2 |
4 | g.664907T>G | CA355919670 | PDE6B | c.2156T>G (p.Leu719Arg) c.1319T>G (p.Leu440Arg) n.526T>G c.236T>G (p.Leu79Arg) c.2375T>G (p.Leu792Arg) c.1361T>G (p.Leu454Arg) c.1085T>G (p.Leu362Arg) c.1001T>G (p.Leu334Arg) | |
4 | g.664907T= | CA1432854272 | PDE6B | c.2156T= (p.Leu719=) c.1319T= (p.Leu440=) n.526T= c.236T= (p.Leu79=) c.2375T= (p.Leu792=) c.1361T= (p.Leu454=) c.1085T= (p.Leu362=) c.1001T= (p.Leu334=) | |
4 | g.664908G>A | CA437901028 | PDE6B | c.2157G>A (p.Leu719=) c.1320G>A (p.Leu440=) n.527G>A c.237G>A (p.Leu79=) c.2376G>A (p.Leu792=) c.1362G>A (p.Leu454=) c.1086G>A (p.Leu362=) c.1002G>A (p.Leu334=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664908G>C | CA437901029 | PDE6B | c.2157G>C (p.Leu719=) c.1320G>C (p.Leu440=) n.527G>C c.237G>C (p.Leu79=) c.2376G>C (p.Leu792=) c.1362G>C (p.Leu454=) c.1086G>C (p.Leu362=) c.1002G>C (p.Leu334=) | dbSNP |
4 | g.664908G= | CA1432854278 | PDE6B | c.2157G= (p.Leu719=) c.1320G= (p.Leu440=) n.527G= c.237G= (p.Leu79=) c.2376G= (p.Leu792=) c.1362G= (p.Leu454=) c.1086G= (p.Leu362=) c.1002G= (p.Leu334=) | |
4 | g.664908G>T | CA437901030 | PDE6B | c.2157G>T (p.Leu719=) c.1320G>T (p.Leu440=) n.527G>T c.237G>T (p.Leu79=) c.2376G>T (p.Leu792=) c.1362G>T (p.Leu454=) c.1086G>T (p.Leu362=) c.1002G>T (p.Leu334=) | |
4 | g.664909T>A | CA355919674 | PDE6B | c.2158T>A (p.Ser720Thr) c.1321T>A (p.Ser441Thr) n.528T>A c.238T>A (p.Ser80Thr) c.2377T>A (p.Ser793Thr) c.1363T>A (p.Ser455Thr) c.1087T>A (p.Ser363Thr) c.1003T>A (p.Ser335Thr) | |
4 | g.664909T>C | CA355919675 | PDE6B | c.2158T>C (p.Ser720Pro) c.1321T>C (p.Ser441Pro) n.528T>C c.238T>C (p.Ser80Pro) c.2377T>C (p.Ser793Pro) c.1363T>C (p.Ser455Pro) c.1087T>C (p.Ser363Pro) c.1003T>C (p.Ser335Pro) | |
4 | g.664909T>G | CA355919677 | PDE6B | c.2158T>G (p.Ser720Ala) c.1321T>G (p.Ser441Ala) n.528T>G c.238T>G (p.Ser80Ala) c.2377T>G (p.Ser793Ala) c.1363T>G (p.Ser455Ala) c.1087T>G (p.Ser363Ala) c.1003T>G (p.Ser335Ala) | |
4 | g.664910C>A | CA355919678 | PDE6B | c.2159C>A (p.Ser720Tyr) c.1322C>A (p.Ser441Tyr) n.529C>A c.1C>A c.239C>A (p.Ser80Tyr) c.2378C>A (p.Ser793Tyr) c.1364C>A (p.Ser455Tyr) c.1088C>A (p.Ser363Tyr) c.1004C>A (p.Ser335Tyr) | gnomAD v4 |
4 | g.664910C= | CA1432854285 | PDE6B | c.2159C= (p.Ser720=) c.1322C= (p.Ser441=) n.529C= c.1C= c.239C= (p.Ser80=) c.2378C= (p.Ser793=) c.1364C= (p.Ser455=) c.1088C= (p.Ser363=) c.1004C= (p.Ser335=) | |
4 | g.664910C>G | CA355919680 | PDE6B | c.2159C>G (p.Ser720Cys) c.1322C>G (p.Ser441Cys) n.529C>G c.1C>G c.239C>G (p.Ser80Cys) c.2378C>G (p.Ser793Cys) c.1364C>G (p.Ser455Cys) c.1088C>G (p.Ser363Cys) c.1004C>G (p.Ser335Cys) | |
4 | g.664910C>T | CA355919681 | PDE6B | c.2159C>T (p.Ser720Phe) c.1322C>T (p.Ser441Phe) n.529C>T c.1C>T c.239C>T (p.Ser80Phe) c.2378C>T (p.Ser793Phe) c.1364C>T (p.Ser455Phe) c.1088C>T (p.Ser363Phe) c.1004C>T (p.Ser335Phe) | dbSNP |
4 | g.664911T>A | CA437901037 | PDE6B | c.2160T>A (p.Ser720=) c.1323T>A (p.Ser441=) n.530T>A c.2T>A c.240T>A (p.Ser80=) c.2379T>A (p.Ser793=) c.1365T>A (p.Ser455=) c.1089T>A (p.Ser363=) c.1005T>A (p.Ser335=) | gnomAD v4 |
4 | g.664911T>C | CA437901038 | PDE6B | c.2160T>C (p.Ser720=) c.1323T>C (p.Ser441=) n.530T>C c.2T>C c.240T>C (p.Ser80=) c.2379T>C (p.Ser793=) c.1365T>C (p.Ser455=) c.1089T>C (p.Ser363=) c.1005T>C (p.Ser335=) | |
4 | g.664911T>G | CA437901039 | PDE6B | c.2160T>G (p.Ser720=) c.1323T>G (p.Ser441=) n.530T>G c.2T>G c.240T>G (p.Ser80=) c.2379T>G (p.Ser793=) c.1365T>G (p.Ser455=) c.1089T>G (p.Ser363=) c.1005T>G (p.Ser335=) | |
4 | g.664912G>A | CA355919682 | PDE6B | c.2161G>A (p.Ala721Thr) c.1324G>A (p.Ala442Thr) n.531G>A c.3G>A c.241G>A (p.Ala81Thr) c.2380G>A (p.Ala794Thr) c.1366G>A (p.Ala456Thr) c.1090G>A (p.Ala364Thr) c.1006G>A (p.Ala336Thr) | |
4 | g.664912G>C | CA355919684 | PDE6B | c.2161G>C (p.Ala721Pro) c.1324G>C (p.Ala442Pro) n.531G>C c.3G>C c.241G>C (p.Ala81Pro) c.2380G>C (p.Ala794Pro) c.1366G>C (p.Ala456Pro) c.1090G>C (p.Ala364Pro) c.1006G>C (p.Ala336Pro) | |
4 | g.664912G>T | CA355919686 | PDE6B | c.2161G>T (p.Ala721Ser) c.1324G>T (p.Ala442Ser) n.531G>T c.3G>T c.241G>T (p.Ala81Ser) c.2380G>T (p.Ala794Ser) c.1366G>T (p.Ala456Ser) c.1090G>T (p.Ala364Ser) c.1006G>T (p.Ala336Ser) | |
4 | g.664913C>A | CA355919688 | PDE6B | c.2162C>A (p.Ala721Asp) c.1325C>A (p.Ala442Asp) n.532C>A c.4C>A c.242C>A (p.Ala81Asp) c.2381C>A (p.Ala794Asp) c.1367C>A (p.Ala456Asp) c.1091C>A (p.Ala364Asp) c.1007C>A (p.Ala336Asp) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664913C= | CA1432854290 | PDE6B | c.2162C= (p.Ala721=) c.1325C= (p.Ala442=) n.532C= c.4C= c.242C= (p.Ala81=) c.2381C= (p.Ala794=) c.1367C= (p.Ala456=) c.1091C= (p.Ala364=) c.1007C= (p.Ala336=) | |
4 | g.664913C>G | CA355919690 | PDE6B | c.2162C>G (p.Ala721Gly) c.1325C>G (p.Ala442Gly) n.532C>G c.4C>G c.242C>G (p.Ala81Gly) c.2381C>G (p.Ala794Gly) c.1367C>G (p.Ala456Gly) c.1091C>G (p.Ala364Gly) c.1007C>G (p.Ala336Gly) | |
4 | g.664913C>T | CA355919692 | PDE6B | c.2162C>T (p.Ala721Val) c.1325C>T (p.Ala442Val) n.532C>T c.4C>T c.242C>T (p.Ala81Val) c.2381C>T (p.Ala794Val) c.1367C>T (p.Ala456Val) c.1091C>T (p.Ala364Val) c.1007C>T (p.Ala336Val) | gnomAD v4 COSMIC |
4 | g.664914C>A | CA437901043 | PDE6B | c.2163C>A (p.Ala721=) c.1326C>A (p.Ala442=) n.533C>A c.5C>A c.243C>A (p.Ala81=) c.2382C>A (p.Ala794=) c.1368C>A (p.Ala456=) c.1092C>A (p.Ala364=) c.1008C>A (p.Ala336=) | |
4 | g.664914C= | CA1432854295 | PDE6B | c.2163C= (p.Ala721=) c.1326C= (p.Ala442=) n.533C= c.5C= c.243C= (p.Ala81=) c.2382C= (p.Ala794=) c.1368C= (p.Ala456=) c.1092C= (p.Ala364=) c.1008C= (p.Ala336=) | |
4 | g.664914C>G | CA437901044 | PDE6B | c.2163C>G (p.Ala721=) c.1326C>G (p.Ala442=) n.533C>G c.5C>G c.243C>G (p.Ala81=) c.2382C>G (p.Ala794=) c.1368C>G (p.Ala456=) c.1092C>G (p.Ala364=) c.1008C>G (p.Ala336=) | |
4 | g.664914C>T | CA437901045 | PDE6B | c.2163C>T (p.Ala721=) c.1326C>T (p.Ala442=) n.533C>T c.5C>T c.243C>T (p.Ala81=) c.2382C>T (p.Ala794=) c.1368C>T (p.Ala456=) c.1092C>T (p.Ala364=) c.1008C>T (p.Ala336=) | dbSNP |
4 | g.664915A= | CA1432854301 | PDE6B | c.2164A= (p.Ile722=) c.1327A= (p.Ile443=) n.534A= c.6A= c.244A= (p.Ile82=) c.2383A= (p.Ile795=) c.1369A= (p.Ile457=) c.1093A= (p.Ile365=) c.1009A= (p.Ile337=) | |
4 | g.664915A>C | CA2794915 | PDE6B | c.2164A>C (p.Ile722Leu) c.1327A>C (p.Ile443Leu) n.534A>C c.6A>C c.244A>C (p.Ile82Leu) c.2383A>C (p.Ile795Leu) c.1369A>C (p.Ile457Leu) c.1093A>C (p.Ile365Leu) c.1009A>C (p.Ile337Leu) | dbSNP ExAC gnomAD v2 |
4 | g.664915A>G | CA355919694 | PDE6B | c.2164A>G (p.Ile722Val) c.1327A>G (p.Ile443Val) n.534A>G c.6A>G c.244A>G (p.Ile82Val) c.2383A>G (p.Ile795Val) c.1369A>G (p.Ile457Val) c.1093A>G (p.Ile365Val) c.1009A>G (p.Ile337Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664915A>T | CA355919696 | PDE6B | c.2164A>T (p.Ile722Phe) c.1327A>T (p.Ile443Phe) n.534A>T c.6A>T c.244A>T (p.Ile82Phe) c.2383A>T (p.Ile795Phe) c.1369A>T (p.Ile457Phe) c.1093A>T (p.Ile365Phe) c.1009A>T (p.Ile337Phe) | |
4 | g.664916T>A | CA355919699 | PDE6B | c.2165T>A (p.Ile722Asn) c.1328T>A (p.Ile443Asn) n.535T>A c.7T>A c.245T>A (p.Ile82Asn) c.2384T>A (p.Ile795Asn) c.1370T>A (p.Ile457Asn) c.1094T>A (p.Ile365Asn) c.1010T>A (p.Ile337Asn) | |
4 | g.664916T>C | CA355919700 | PDE6B | c.2165T>C (p.Ile722Thr) c.1328T>C (p.Ile443Thr) n.535T>C c.7T>C c.245T>C (p.Ile82Thr) c.2384T>C (p.Ile795Thr) c.1370T>C (p.Ile457Thr) c.1094T>C (p.Ile365Thr) c.1010T>C (p.Ile337Thr) | |
4 | g.664916T>G | CA355919702 | PDE6B | c.2165T>G (p.Ile722Ser) c.1328T>G (p.Ile443Ser) n.535T>G c.7T>G c.245T>G (p.Ile82Ser) c.2384T>G (p.Ile795Ser) c.1370T>G (p.Ile457Ser) c.1094T>G (p.Ile365Ser) c.1010T>G (p.Ile337Ser) | |
4 | g.664917C>A | CA437901048 | PDE6B | c.2166C>A (p.Ile722=) c.1329C>A (p.Ile443=) n.536C>A c.8C>A c.246C>A (p.Ile82=) c.2385C>A (p.Ile795=) c.1371C>A (p.Ile457=) c.1095C>A (p.Ile365=) c.1011C>A (p.Ile337=) | dbSNP gnomAD v4 |
4 | g.664917C= | CA1432854304 | PDE6B | c.2166C= (p.Ile722=) c.1329C= (p.Ile443=) n.536C= c.8C= c.246C= (p.Ile82=) c.2385C= (p.Ile795=) c.1371C= (p.Ile457=) c.1095C= (p.Ile365=) c.1011C= (p.Ile337=) | |
4 | g.664917C>G | CA355919704 | PDE6B | c.2166C>G (p.Ile722Met) c.1329C>G (p.Ile443Met) n.536C>G c.8C>G c.246C>G (p.Ile82Met) c.2385C>G (p.Ile795Met) c.1371C>G (p.Ile457Met) c.1095C>G (p.Ile365Met) c.1011C>G (p.Ile337Met) | |
4 | g.664917C>T | CA2794916 | PDE6B | c.2166C>T (p.Ile722=) c.1329C>T (p.Ile443=) n.536C>T c.8C>T c.246C>T (p.Ile82=) c.2385C>T (p.Ile795=) c.1371C>T (p.Ile457=) c.1095C>T (p.Ile365=) c.1011C>T (p.Ile337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664918A>C | CA355919710 | PDE6B | c.2167A>C (p.Thr723Pro) c.1330A>C (p.Thr444Pro) n.537A>C c.9A>C c.247A>C (p.Thr83Pro) c.2386A>C (p.Thr796Pro) c.1372A>C (p.Thr458Pro) c.1096A>C (p.Thr366Pro) c.1012A>C (p.Thr338Pro) | |
4 | g.664918A>G | CA355919709 | PDE6B | c.2167A>G (p.Thr723Ala) c.1330A>G (p.Thr444Ala) n.537A>G c.9A>G c.247A>G (p.Thr83Ala) c.2386A>G (p.Thr796Ala) c.1372A>G (p.Thr458Ala) c.1096A>G (p.Thr366Ala) c.1012A>G (p.Thr338Ala) | gnomAD v4 |
4 | g.664918A>T | CA355919707 | PDE6B | c.2167A>T (p.Thr723Ser) c.1330A>T (p.Thr444Ser) n.537A>T c.9A>T c.247A>T (p.Thr83Ser) c.2386A>T (p.Thr796Ser) c.1372A>T (p.Thr458Ser) c.1096A>T (p.Thr366Ser) c.1012A>T (p.Thr338Ser) | |
4 | g.664919C>A | CA355919712 | PDE6B | c.2168C>A (p.Thr723Asn) c.1331C>A (p.Thr444Asn) n.538C>A c.10C>A c.248C>A (p.Thr83Asn) c.2387C>A (p.Thr796Asn) c.1373C>A (p.Thr458Asn) c.1097C>A (p.Thr366Asn) c.1013C>A (p.Thr338Asn) | |
4 | g.664919C>G | CA355919714 | PDE6B | c.2168C>G (p.Thr723Ser) c.1331C>G (p.Thr444Ser) n.538C>G c.10C>G c.248C>G (p.Thr83Ser) c.2387C>G (p.Thr796Ser) c.1373C>G (p.Thr458Ser) c.1097C>G (p.Thr366Ser) c.1013C>G (p.Thr338Ser) | |
4 | g.664919C>T | CA355919716 | PDE6B | c.2168C>T (p.Thr723Ile) c.1331C>T (p.Thr444Ile) n.538C>T c.10C>T c.248C>T (p.Thr83Ile) c.2387C>T (p.Thr796Ile) c.1373C>T (p.Thr458Ile) c.1097C>T (p.Thr366Ile) c.1013C>T (p.Thr338Ile) | |
4 | g.664920C>A | CA437901053 | PDE6B | c.2169C>A (p.Thr723=) c.1332C>A (p.Thr444=) n.539C>A c.11C>A c.249C>A (p.Thr83=) c.2388C>A (p.Thr796=) c.1374C>A (p.Thr458=) c.1098C>A (p.Thr366=) c.1014C>A (p.Thr338=) | |
4 | g.664920C= | CA1432854308 | PDE6B | c.2169C= (p.Thr723=) c.1332C= (p.Thr444=) n.539C= c.11C= c.249C= (p.Thr83=) c.2388C= (p.Thr796=) c.1374C= (p.Thr458=) c.1098C= (p.Thr366=) c.1014C= (p.Thr338=) | |
4 | g.664920C>G | CA437901055 | PDE6B | c.2169C>G (p.Thr723=) c.1332C>G (p.Thr444=) n.539C>G c.11C>G c.249C>G (p.Thr83=) c.2388C>G (p.Thr796=) c.1374C>G (p.Thr458=) c.1098C>G (p.Thr366=) c.1014C>G (p.Thr338=) | |
4 | g.664920C>T | CA437901054 | PDE6B | c.2169C>T (p.Thr723=) c.1332C>T (p.Thr444=) n.539C>T c.11C>T c.249C>T (p.Thr83=) c.2388C>T (p.Thr796=) c.1374C>T (p.Thr458=) c.1098C>T (p.Thr366=) c.1014C>T (p.Thr338=) | dbSNP gnomAD v4 |
4 | g.664921A>C | CA355919718 | PDE6B | c.2170A>C (p.Lys724Gln) c.1333A>C (p.Lys445Gln) n.540A>C c.12A>C c.250A>C (p.Lys84Gln) c.2389A>C (p.Lys797Gln) c.1375A>C (p.Lys459Gln) c.1099A>C (p.Lys367Gln) c.1015A>C (p.Lys339Gln) | gnomAD v4 |
4 | g.664921A>G | CA355919719 | PDE6B | c.2170A>G (p.Lys724Glu) c.1333A>G (p.Lys445Glu) n.540A>G c.12A>G c.250A>G (p.Lys84Glu) c.2389A>G (p.Lys797Glu) c.1375A>G (p.Lys459Glu) c.1099A>G (p.Lys367Glu) c.1015A>G (p.Lys339Glu) | |
4 | g.664921A>T | CA355919721 | PDE6B | c.2170A>T (p.Lys724Ter) c.1333A>T (p.Lys445Ter) n.540A>T c.12A>T c.250A>T (p.Lys84Ter) c.2389A>T (p.Lys797Ter) c.1375A>T (p.Lys459Ter) c.1099A>T (p.Lys367Ter) c.1015A>T (p.Lys339Ter) | |
4 | g.664922A>C | CA355919727 | PDE6B | c.2171A>C (p.Lys724Thr) c.1334A>C (p.Lys445Thr) n.541A>C c.13A>C c.251A>C (p.Lys84Thr) c.2390A>C (p.Lys797Thr) c.1376A>C (p.Lys459Thr) c.1100A>C (p.Lys367Thr) c.1016A>C (p.Lys339Thr) | |
4 | g.664922A>G | CA355919724 | PDE6B | c.2171A>G (p.Lys724Arg) c.1334A>G (p.Lys445Arg) n.541A>G c.13A>G c.251A>G (p.Lys84Arg) c.2390A>G (p.Lys797Arg) c.1376A>G (p.Lys459Arg) c.1100A>G (p.Lys367Arg) c.1016A>G (p.Lys339Arg) | |
4 | g.664922A>T | CA355919725 | PDE6B | c.2171A>T (p.Lys724Met) c.1334A>T (p.Lys445Met) n.541A>T c.13A>T c.251A>T (p.Lys84Met) c.2390A>T (p.Lys797Met) c.1376A>T (p.Lys459Met) c.1100A>T (p.Lys367Met) c.1016A>T (p.Lys339Met) | |
4 | g.664923G>A | CA2794917 | PDE6B | c.2172G>A (p.Lys724=) c.1335G>A (p.Lys445=) c.14G>A c.252G>A (p.Lys84=) c.2391G>A (p.Lys797=) c.1377G>A (p.Lys459=) c.1101G>A (p.Lys367=) c.1017G>A (p.Lys339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664923G>C | CA355919730 | PDE6B | c.2172G>C (p.Lys724Asn) c.1335G>C (p.Lys445Asn) c.14G>C c.252G>C (p.Lys84Asn) c.2391G>C (p.Lys797Asn) c.1377G>C (p.Lys459Asn) c.1101G>C (p.Lys367Asn) c.1017G>C (p.Lys339Asn) | gnomAD v4 |
4 | g.664923G= | CA1432854315 | PDE6B | c.2172G= (p.Lys724=) c.1335G= (p.Lys445=) c.14G= c.252G= (p.Lys84=) c.2391G= (p.Lys797=) c.1377G= (p.Lys459=) c.1101G= (p.Lys367=) c.1017G= (p.Lys339=) | |
4 | g.664923G>T | CA355919732 | PDE6B | c.2172G>T (p.Lys724Asn) c.1335G>T (p.Lys445Asn) c.14G>T c.252G>T (p.Lys84Asn) c.2391G>T (p.Lys797Asn) c.1377G>T (p.Lys459Asn) c.1101G>T (p.Lys367Asn) c.1017G>T (p.Lys339Asn) | |
4 | g.664924C>A | CA355919734 | PDE6B | c.2173C>A (p.Pro725Thr) c.1336C>A (p.Pro446Thr) c.15C>A c.253C>A (p.Pro85Thr) c.2392C>A (p.Pro798Thr) c.1378C>A (p.Pro460Thr) c.1102C>A (p.Pro368Thr) c.1018C>A (p.Pro340Thr) | |
4 | g.664924C>G | CA355919736 | PDE6B | c.2173C>G (p.Pro725Ala) c.1336C>G (p.Pro446Ala) c.15C>G c.253C>G (p.Pro85Ala) c.2392C>G (p.Pro798Ala) c.1378C>G (p.Pro460Ala) c.1102C>G (p.Pro368Ala) c.1018C>G (p.Pro340Ala) | |
4 | g.664924C>T | CA355919738 | PDE6B | c.2173C>T (p.Pro725Ser) c.1336C>T (p.Pro446Ser) c.15C>T c.253C>T (p.Pro85Ser) c.2392C>T (p.Pro798Ser) c.1378C>T (p.Pro460Ser) c.1102C>T (p.Pro368Ser) c.1018C>T (p.Pro340Ser) | |
4 | g.664925C>A | CA355919739 | PDE6B | c.2174C>A (p.Pro725His) c.1337C>A (p.Pro446His) c.16C>A c.254C>A (p.Pro85His) c.2393C>A (p.Pro798His) c.1379C>A (p.Pro460His) c.1103C>A (p.Pro368His) c.1019C>A (p.Pro340His) | |
4 | g.664925C= | CA1432854330 | PDE6B | c.2174C= (p.Pro725=) c.1337C= (p.Pro446=) c.16C= c.254C= (p.Pro85=) c.2393C= (p.Pro798=) c.1379C= (p.Pro460=) c.1103C= (p.Pro368=) c.1019C= (p.Pro340=) | |
4 | g.664925C>G | CA355919742 | PDE6B | c.2174C>G (p.Pro725Arg) c.1337C>G (p.Pro446Arg) c.16C>G c.254C>G (p.Pro85Arg) c.2393C>G (p.Pro798Arg) c.1379C>G (p.Pro460Arg) c.1103C>G (p.Pro368Arg) c.1019C>G (p.Pro340Arg) | |
4 | g.664925C>T | CA10621522 | PDE6B | c.2174C>T (p.Pro725Leu) c.1337C>T (p.Pro446Leu) c.16C>T c.254C>T (p.Pro85Leu) c.2393C>T (p.Pro798Leu) c.1379C>T (p.Pro460Leu) c.1103C>T (p.Pro368Leu) c.1019C>T (p.Pro340Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.664926C>A | CA437901059 | PDE6B | c.2175C>A (p.Pro725=) c.1338C>A (p.Pro446=) c.17C>A c.255C>A (p.Pro85=) c.2394C>A (p.Pro798=) c.1380C>A (p.Pro460=) c.1104C>A (p.Pro368=) c.1020C>A (p.Pro340=) | |
4 | g.664926C>G | CA437901060 | PDE6B | c.2175C>G (p.Pro725=) c.1338C>G (p.Pro446=) c.17C>G c.255C>G (p.Pro85=) c.2394C>G (p.Pro798=) c.1380C>G (p.Pro460=) c.1104C>G (p.Pro368=) c.1020C>G (p.Pro340=) | |
4 | g.664926C>T | CA437901061 | PDE6B | c.2175C>T (p.Pro725=) c.1338C>T (p.Pro446=) c.17C>T c.255C>T (p.Pro85=) c.2394C>T (p.Pro798=) c.1380C>T (p.Pro460=) c.1104C>T (p.Pro368=) c.1020C>T (p.Pro340=) | |
4 | g.664927T>A | CA355919745 | PDE6B | c.2176T>A (p.Trp726Arg) c.1339T>A (p.Trp447Arg) c.18T>A c.256T>A (p.Trp86Arg) c.2395T>A (p.Trp799Arg) c.1381T>A (p.Trp461Arg) c.1105T>A (p.Trp369Arg) c.1021T>A (p.Trp341Arg) | |
4 | g.664927T>C | CA355919747 | PDE6B | c.2176T>C (p.Trp726Arg) c.1339T>C (p.Trp447Arg) c.18T>C c.256T>C (p.Trp86Arg) c.2395T>C (p.Trp799Arg) c.1381T>C (p.Trp461Arg) c.1105T>C (p.Trp369Arg) c.1021T>C (p.Trp341Arg) | |
4 | g.664927T>G | CA355919749 | PDE6B | c.2176T>G (p.Trp726Gly) c.1339T>G (p.Trp447Gly) c.18T>G c.256T>G (p.Trp86Gly) c.2395T>G (p.Trp799Gly) c.1381T>G (p.Trp461Gly) c.1105T>G (p.Trp369Gly) c.1021T>G (p.Trp341Gly) | |
4 | g.664928G>A | CA355919751 | PDE6B | c.2177G>A (p.Trp726Ter) c.1340G>A (p.Trp447Ter) c.19G>A c.257G>A (p.Trp86Ter) c.2396G>A (p.Trp799Ter) c.1382G>A (p.Trp461Ter) c.1106G>A (p.Trp369Ter) c.1022G>A (p.Trp341Ter) | |
4 | g.664928G>C | CA355919754 | PDE6B | c.2177G>C (p.Trp726Ser) c.1340G>C (p.Trp447Ser) c.19G>C c.257G>C (p.Trp86Ser) c.2396G>C (p.Trp799Ser) c.1382G>C (p.Trp461Ser) c.1106G>C (p.Trp369Ser) c.1022G>C (p.Trp341Ser) | |
4 | g.664928G>T | CA355919753 | PDE6B | c.2177G>T (p.Trp726Leu) c.1340G>T (p.Trp447Leu) c.19G>T c.257G>T (p.Trp86Leu) c.2396G>T (p.Trp799Leu) c.1382G>T (p.Trp461Leu) c.1106G>T (p.Trp369Leu) c.1022G>T (p.Trp341Leu) | |
4 | g.664930del | CA2586973505 | PDE6B | c.2179del (p.Glu727LysfsTer?) c.1342del (p.Glu448LysfsTer?) c.21del c.259del (p.Glu87LysfsTer?) c.2398del (p.Glu800LysfsTer?) c.1384del (p.Glu462LysfsTer?) c.1108del (p.Glu370LysfsTer?) c.1024del (p.Glu342LysfsTer?) | |
4 | g.664929G>A | CA355919757 | PDE6B | c.2178G>A (p.Trp726Ter) c.1341G>A (p.Trp447Ter) c.20G>A c.258G>A (p.Trp86Ter) c.2397G>A (p.Trp799Ter) c.1383G>A (p.Trp461Ter) c.1107G>A (p.Trp369Ter) c.1023G>A (p.Trp341Ter) | dbSNP gnomAD v4 COSMIC |
4 | g.664929G>C | CA355919759 | PDE6B | c.2178G>C (p.Trp726Cys) c.1341G>C (p.Trp447Cys) c.20G>C c.258G>C (p.Trp86Cys) c.2397G>C (p.Trp799Cys) c.1383G>C (p.Trp461Cys) c.1107G>C (p.Trp369Cys) c.1023G>C (p.Trp341Cys) | dbSNP |
4 | g.664929G= | CA1432854336 | PDE6B | c.2178G= (p.Trp726=) c.1341G= (p.Trp447=) c.20G= c.258G= (p.Trp86=) c.2397G= (p.Trp799=) c.1383G= (p.Trp461=) c.1107G= (p.Trp369=) c.1023G= (p.Trp341=) | |
4 | g.664929G>T | CA355919758 | PDE6B | c.2178G>T (p.Trp726Cys) c.1341G>T (p.Trp447Cys) c.20G>T c.258G>T (p.Trp86Cys) c.2397G>T (p.Trp799Cys) c.1383G>T (p.Trp461Cys) c.1107G>T (p.Trp369Cys) c.1023G>T (p.Trp341Cys) | |
4 | g.664930G>A | CA355919760 | PDE6B | c.2179G>A (p.Glu727Lys) c.1342G>A (p.Glu448Lys) c.21G>A c.259G>A (p.Glu87Lys) c.2398G>A (p.Glu800Lys) c.1384G>A (p.Glu462Lys) c.1108G>A (p.Glu370Lys) c.1024G>A (p.Glu342Lys) | gnomAD v4 |
4 | g.664930G>C | CA355919761 | PDE6B | c.2179G>C (p.Glu727Gln) c.1342G>C (p.Glu448Gln) c.21G>C c.259G>C (p.Glu87Gln) c.2398G>C (p.Glu800Gln) c.1384G>C (p.Glu462Gln) c.1108G>C (p.Glu370Gln) c.1024G>C (p.Glu342Gln) | |
4 | g.664930G>T | CA355919762 | PDE6B | c.2179G>T (p.Glu727Ter) c.1342G>T (p.Glu448Ter) c.21G>T c.259G>T (p.Glu87Ter) c.2398G>T (p.Glu800Ter) c.1384G>T (p.Glu462Ter) c.1108G>T (p.Glu370Ter) c.1024G>T (p.Glu342Ter) | |
4 | g.664931A>C | CA355919764 | PDE6B | c.2180A>C (p.Glu727Ala) c.1343A>C (p.Glu448Ala) c.22A>C c.260A>C (p.Glu87Ala) c.2399A>C (p.Glu800Ala) c.1385A>C (p.Glu462Ala) c.1109A>C (p.Glu370Ala) c.1025A>C (p.Glu342Ala) | |
4 | g.664931A>G | CA355919766 | PDE6B | c.2180A>G (p.Glu727Gly) c.1343A>G (p.Glu448Gly) c.22A>G c.260A>G (p.Glu87Gly) c.2399A>G (p.Glu800Gly) c.1385A>G (p.Glu462Gly) c.1109A>G (p.Glu370Gly) c.1025A>G (p.Glu342Gly) | |
4 | g.664931A>T | CA355919767 | PDE6B | c.2180A>T (p.Glu727Val) c.1343A>T (p.Glu448Val) c.22A>T c.260A>T (p.Glu87Val) c.2399A>T (p.Glu800Val) c.1385A>T (p.Glu462Val) c.1109A>T (p.Glu370Val) c.1025A>T (p.Glu342Val) | |
4 | g.664932A>C | CA355919769 | PDE6B | c.2181A>C (p.Glu727Asp) c.1344A>C (p.Glu448Asp) c.23A>C c.261A>C (p.Glu87Asp) c.2400A>C (p.Glu800Asp) c.1386A>C (p.Glu462Asp) c.1110A>C (p.Glu370Asp) c.1026A>C (p.Glu342Asp) | |
4 | g.664932A>G | CA437901070 | PDE6B | c.2181A>G (p.Glu727=) c.1344A>G (p.Glu448=) c.23A>G c.261A>G (p.Glu87=) c.2400A>G (p.Glu800=) c.1386A>G (p.Glu462=) c.1110A>G (p.Glu370=) c.1026A>G (p.Glu342=) | gnomAD v4 |
4 | g.664932A>T | CA355919770 | PDE6B | c.2181A>T (p.Glu727Asp) c.1344A>T (p.Glu448Asp) c.23A>T c.261A>T (p.Glu87Asp) c.2400A>T (p.Glu800Asp) c.1386A>T (p.Glu462Asp) c.1110A>T (p.Glu370Asp) c.1026A>T (p.Glu342Asp) | |
4 | g.664933G>A | CA355919772 | PDE6B | c.2182G>A (p.Val728Ile) c.1345G>A (p.Val449Ile) c.24G>A c.262G>A (p.Val88Ile) c.2401G>A (p.Val801Ile) c.1387G>A (p.Val463Ile) c.1111G>A (p.Val371Ile) c.1027G>A (p.Val343Ile) | |
4 | g.664933G>C | CA355919773 | PDE6B | c.2182G>C (p.Val728Leu) c.1345G>C (p.Val449Leu) c.24G>C c.262G>C (p.Val88Leu) c.2401G>C (p.Val801Leu) c.1387G>C (p.Val463Leu) c.1111G>C (p.Val371Leu) c.1027G>C (p.Val343Leu) | |
4 | g.664933G>T | CA355919775 | PDE6B | c.2182G>T (p.Val728Phe) c.1345G>T (p.Val449Phe) c.24G>T c.262G>T (p.Val88Phe) c.2401G>T (p.Val801Phe) c.1387G>T (p.Val463Phe) c.1111G>T (p.Val371Phe) c.1027G>T (p.Val343Phe) | |
4 | g.664934T>A | CA355919781 | PDE6B | c.2183T>A (p.Val728Asp) c.1346T>A (p.Val449Asp) c.25T>A c.263T>A (p.Val88Asp) c.2402T>A (p.Val801Asp) c.1388T>A (p.Val463Asp) c.1112T>A (p.Val371Asp) c.1028T>A (p.Val343Asp) | |
4 | g.664934T>C | CA355919779 | PDE6B | c.2183T>C (p.Val728Ala) c.1346T>C (p.Val449Ala) c.25T>C c.263T>C (p.Val88Ala) c.2402T>C (p.Val801Ala) c.1388T>C (p.Val463Ala) c.1112T>C (p.Val371Ala) c.1028T>C (p.Val343Ala) | |
4 | g.664934T>G | CA355919777 | PDE6B | c.2183T>G (p.Val728Gly) c.1346T>G (p.Val449Gly) c.25T>G c.263T>G (p.Val88Gly) c.2402T>G (p.Val801Gly) c.1388T>G (p.Val463Gly) c.1112T>G (p.Val371Gly) c.1028T>G (p.Val343Gly) | |
4 | g.664935C>A | CA437901073 | PDE6B | c.2184C>A (p.Val728=) c.1347C>A (p.Val449=) c.26C>A c.264C>A (p.Val88=) c.2403C>A (p.Val801=) c.1389C>A (p.Val463=) c.1113C>A (p.Val371=) c.1029C>A (p.Val343=) | |
4 | g.664935C= | CA1432854341 | PDE6B | c.2184C= (p.Val728=) c.1347C= (p.Val449=) c.26C= c.264C= (p.Val88=) c.2403C= (p.Val801=) c.1389C= (p.Val463=) c.1113C= (p.Val371=) c.1029C= (p.Val343=) | |
4 | g.664935C>G | CA437901075 | PDE6B | c.2184C>G (p.Val728=) c.1347C>G (p.Val449=) c.26C>G c.264C>G (p.Val88=) c.2403C>G (p.Val801=) c.1389C>G (p.Val463=) c.1113C>G (p.Val371=) c.1029C>G (p.Val343=) | |
4 | g.664935C>T | CA2794918 | PDE6B | c.2184C>T (p.Val728=) c.1347C>T (p.Val449=) c.26C>T c.264C>T (p.Val88=) c.2403C>T (p.Val801=) c.1389C>T (p.Val463=) c.1113C>T (p.Val371=) c.1029C>T (p.Val343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664936del | CA2578009835 | PDE6B | c.2185del (p.Gln729ArgfsTer30) c.1348del (p.Gln450ArgfsTer30) c.27del c.265del (p.Gln89ArgfsTer30) c.2404del (p.Gln802ArgfsTer30) c.1390del (p.Gln464ArgfsTer30) c.1114del (p.Gln372ArgfsTer30) c.1030del (p.Gln344ArgfsTer30) | |
4 | g.664936C>A | CA355919783 | PDE6B | c.2185C>A (p.Gln729Lys) c.1348C>A (p.Gln450Lys) c.27C>A c.265C>A (p.Gln89Lys) c.2404C>A (p.Gln802Lys) c.1390C>A (p.Gln464Lys) c.1114C>A (p.Gln372Lys) c.1030C>A (p.Gln344Lys) | |
4 | g.664936C>G | CA355919785 | PDE6B | c.2185C>G (p.Gln729Glu) c.1348C>G (p.Gln450Glu) c.27C>G c.265C>G (p.Gln89Glu) c.2404C>G (p.Gln802Glu) c.1390C>G (p.Gln464Glu) c.1114C>G (p.Gln372Glu) c.1030C>G (p.Gln344Glu) | |
4 | g.664936C>T | CA355919787 | PDE6B | c.2185C>T (p.Gln729Ter) c.1348C>T (p.Gln450Ter) c.27C>T c.265C>T (p.Gln89Ter) c.2404C>T (p.Gln802Ter) c.1390C>T (p.Gln464Ter) c.1114C>T (p.Gln372Ter) c.1030C>T (p.Gln344Ter) | gnomAD v4 |
4 | g.664937A= | CA1432854344 | PDE6B | c.2186A= (p.Gln729=) c.1349A= (p.Gln450=) c.28A= c.266A= (p.Gln89=) c.2405A= (p.Gln802=) c.1391A= (p.Gln464=) c.1115A= (p.Gln372=) c.1031A= (p.Gln344=) | |
4 | g.664937A>C | CA355919789 | PDE6B | c.2186A>C (p.Gln729Pro) c.1349A>C (p.Gln450Pro) c.28A>C c.266A>C (p.Gln89Pro) c.2405A>C (p.Gln802Pro) c.1391A>C (p.Gln464Pro) c.1115A>C (p.Gln372Pro) c.1031A>C (p.Gln344Pro) | ClinVar |
4 | g.664937A>G | CA355919790 | PDE6B | c.2186A>G (p.Gln729Arg) c.1349A>G (p.Gln450Arg) c.28A>G c.266A>G (p.Gln89Arg) c.2405A>G (p.Gln802Arg) c.1391A>G (p.Gln464Arg) c.1115A>G (p.Gln372Arg) c.1031A>G (p.Gln344Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664937A>T | CA355919792 | PDE6B | c.2186A>T (p.Gln729Leu) c.1349A>T (p.Gln450Leu) c.28A>T c.266A>T (p.Gln89Leu) c.2405A>T (p.Gln802Leu) c.1391A>T (p.Gln464Leu) c.1115A>T (p.Gln372Leu) c.1031A>T (p.Gln344Leu) | |
4 | g.664938G>A | CA437901078 | PDE6B | c.2187G>A (p.Gln729=) c.1350G>A (p.Gln450=) c.29G>A c.267G>A (p.Gln89=) c.2406G>A (p.Gln802=) c.1392G>A (p.Gln464=) c.1116G>A (p.Gln372=) c.1032G>A (p.Gln344=) | |
4 | g.664938G>C | CA355919795 | PDE6B | c.2187G>C (p.Gln729His) c.1350G>C (p.Gln450His) c.29G>C c.267G>C (p.Gln89His) c.2406G>C (p.Gln802His) c.1392G>C (p.Gln464His) c.1116G>C (p.Gln372His) c.1032G>C (p.Gln344His) | |
4 | g.664938G>T | CA355919796 | PDE6B | c.2187G>T (p.Gln729His) c.1350G>T (p.Gln450His) c.29G>T c.267G>T (p.Gln89His) c.2406G>T (p.Gln802His) c.1392G>T (p.Gln464His) c.1116G>T (p.Gln372His) c.1032G>T (p.Gln344His) | |
4 | g.664939A>C | CA355919798 | PDE6B | c.2188A>C (p.Ser730Arg) c.1351A>C (p.Ser451Arg) c.30A>C c.268A>C (p.Ser90Arg) c.2407A>C (p.Ser803Arg) c.1393A>C (p.Ser465Arg) c.1117A>C (p.Ser373Arg) c.1033A>C (p.Ser345Arg) | |
4 | g.664939A>G | CA355919799 | PDE6B | c.2188A>G (p.Ser730Gly) c.1351A>G (p.Ser451Gly) c.30A>G c.268A>G (p.Ser90Gly) c.2407A>G (p.Ser803Gly) c.1393A>G (p.Ser465Gly) c.1117A>G (p.Ser373Gly) c.1033A>G (p.Ser345Gly) | |
4 | g.664939A>T | CA355919800 | PDE6B | c.2188A>T (p.Ser730Cys) c.1351A>T (p.Ser451Cys) c.30A>T c.268A>T (p.Ser90Cys) c.2407A>T (p.Ser803Cys) c.1393A>T (p.Ser465Cys) c.1117A>T (p.Ser373Cys) c.1033A>T (p.Ser345Cys) | |
4 | g.664940G>A | CA355919806 | PDE6B | c.2189G>A (p.Ser730Asn) c.1352G>A (p.Ser451Asn) c.31G>A c.269G>A (p.Ser90Asn) c.2408G>A (p.Ser803Asn) c.1394G>A (p.Ser465Asn) c.1118G>A (p.Ser373Asn) c.1034G>A (p.Ser345Asn) | ClinVar |
4 | g.664940G>C | CA355919805 | PDE6B | c.2189G>C (p.Ser730Thr) c.1352G>C (p.Ser451Thr) c.31G>C c.269G>C (p.Ser90Thr) c.2408G>C (p.Ser803Thr) c.1394G>C (p.Ser465Thr) c.1118G>C (p.Ser373Thr) c.1034G>C (p.Ser345Thr) | |
4 | g.664940G>T | CA355919803 | PDE6B | c.2189G>T (p.Ser730Ile) c.1352G>T (p.Ser451Ile) c.31G>T c.269G>T (p.Ser90Ile) c.2408G>T (p.Ser803Ile) c.1394G>T (p.Ser465Ile) c.1118G>T (p.Ser373Ile) c.1034G>T (p.Ser345Ile) | |
4 | g.664941C>A | CA355919808 | PDE6B | c.2190C>A (p.Ser730Arg) c.1353C>A (p.Ser451Arg) c.32C>A c.270C>A (p.Ser90Arg) c.2409C>A (p.Ser803Arg) c.1395C>A (p.Ser465Arg) c.1119C>A (p.Ser373Arg) c.1035C>A (p.Ser345Arg) | |
4 | g.664941C>G | CA355919810 | PDE6B | c.2190C>G (p.Ser730Arg) c.1353C>G (p.Ser451Arg) c.32C>G c.270C>G (p.Ser90Arg) c.2409C>G (p.Ser803Arg) c.1395C>G (p.Ser465Arg) c.1119C>G (p.Ser373Arg) c.1035C>G (p.Ser345Arg) | gnomAD v4 |
4 | g.664941C>T | CA437901080 | PDE6B | c.2190C>T (p.Ser730=) c.1353C>T (p.Ser451=) c.32C>T c.270C>T (p.Ser90=) c.2409C>T (p.Ser803=) c.1395C>T (p.Ser465=) c.1119C>T (p.Ser373=) c.1035C>T (p.Ser345=) | |
4 | g.664942A= | CA1432854347 | PDE6B | c.2191A= (p.Lys731=) c.1354A= (p.Lys452=) c.33A= c.271A= (p.Lys91=) c.2410A= (p.Lys804=) c.1396A= (p.Lys466=) c.1120A= (p.Lys374=) c.1036A= (p.Lys346=) | |
4 | g.664942A>C | CA355919812 | PDE6B | c.2191A>C (p.Lys731Gln) c.1354A>C (p.Lys452Gln) c.33A>C c.271A>C (p.Lys91Gln) c.2410A>C (p.Lys804Gln) c.1396A>C (p.Lys466Gln) c.1120A>C (p.Lys374Gln) c.1036A>C (p.Lys346Gln) | dbSNP |
4 | g.664942A>G | CA355919813 | PDE6B | c.2191A>G (p.Lys731Glu) c.1354A>G (p.Lys452Glu) c.33A>G c.271A>G (p.Lys91Glu) c.2410A>G (p.Lys804Glu) c.1396A>G (p.Lys466Glu) c.1120A>G (p.Lys374Glu) c.1036A>G (p.Lys346Glu) | ClinVar |
4 | g.664942A>T | CA355919815 | PDE6B | c.2191A>T (p.Lys731Ter) c.1354A>T (p.Lys452Ter) c.33A>T c.271A>T (p.Lys91Ter) c.2410A>T (p.Lys804Ter) c.1396A>T (p.Lys466Ter) c.1120A>T (p.Lys374Ter) c.1036A>T (p.Lys346Ter) | |
4 | g.664943A>C | CA355919818 | PDE6B | c.2192A>C (p.Lys731Thr) c.1355A>C (p.Lys452Thr) c.34A>C c.272A>C (p.Lys91Thr) c.2411A>C (p.Lys804Thr) c.1397A>C (p.Lys466Thr) c.1121A>C (p.Lys374Thr) c.1037A>C (p.Lys346Thr) | |
4 | g.664943A>G | CA355919819 | PDE6B | c.2192A>G (p.Lys731Arg) c.1355A>G (p.Lys452Arg) c.34A>G c.272A>G (p.Lys91Arg) c.2411A>G (p.Lys804Arg) c.1397A>G (p.Lys466Arg) c.1121A>G (p.Lys374Arg) c.1037A>G (p.Lys346Arg) | |
4 | g.664943A>T | CA355919821 | PDE6B | c.2192A>T (p.Lys731Met) c.1355A>T (p.Lys452Met) c.34A>T c.272A>T (p.Lys91Met) c.2411A>T (p.Lys804Met) c.1397A>T (p.Lys466Met) c.1121A>T (p.Lys374Met) c.1037A>T (p.Lys346Met) | |
4 | g.664944G>A | CA437901084 | PDE6B | c.2193G>A (p.Lys731=) c.1356G>A (p.Lys452=) c.35G>A c.273G>A (p.Lys91=) c.2412G>A (p.Lys804=) c.1398G>A (p.Lys466=) c.1122G>A (p.Lys374=) c.1038G>A (p.Lys346=) | ClinVar dbSNP gnomAD v4 |
4 | g.664944G>C | CA355919823 | PDE6B | c.2193G>C (p.Lys731Asn) c.1356G>C (p.Lys452Asn) c.35G>C c.273G>C (p.Lys91Asn) c.2412G>C (p.Lys804Asn) c.1398G>C (p.Lys466Asn) c.1122G>C (p.Lys374Asn) c.1038G>C (p.Lys346Asn) | gnomAD v4 |
4 | g.664944G= | CA1432854350 | PDE6B | c.2193G= (p.Lys731=) c.1356G= (p.Lys452=) c.35G= c.273G= (p.Lys91=) c.2412G= (p.Lys804=) c.1398G= (p.Lys466=) c.1122G= (p.Lys374=) c.1038G= (p.Lys346=) | |
4 | g.664944G>T | CA355919825 | PDE6B | c.2193G>T (p.Lys731Asn) c.1356G>T (p.Lys452Asn) c.35G>T c.273G>T (p.Lys91Asn) c.2412G>T (p.Lys804Asn) c.1398G>T (p.Lys466Asn) c.1122G>T (p.Lys374Asn) c.1038G>T (p.Lys346Asn) | |
4 | g.664945del | CA2586973506 | PDE6B | c.2193+1del c.1356+1del c.35+1del c.273+1del c.2412+1del c.1398+1del c.1122+1del c.1038+1del | |
4 | g.664945G>A | CA273358 | PDE6B | c.2193+1G>A (n.2193+1G>A) c.1356+1G>A (n.1356+1G>A) c.35+1G>A c.273+1G>A (n.273+1G>A) c.2412+1G>A (n.2412+1G>A) c.1398+1G>A (n.1398+1G>A) c.1122+1G>A (n.1122+1G>A) c.1038+1G>A (n.1038+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664945G>C | CA355919828 | PDE6B | c.2193+1G>C (n.2193+1G>C) c.1356+1G>C (n.1356+1G>C) c.35+1G>C c.273+1G>C (n.273+1G>C) c.2412+1G>C (n.2412+1G>C) c.1398+1G>C (n.1398+1G>C) c.1122+1G>C (n.1122+1G>C) c.1038+1G>C (n.1038+1G>C) | |
4 | g.664945G= | CA1432854358 | PDE6B | c.2193+1G= (n.2193+1G=) c.1356+1G= (n.1356+1G=) c.35+1G= c.273+1G= (n.273+1G=) c.2412+1G= (n.2412+1G=) c.1398+1G= (n.1398+1G=) c.1122+1G= (n.1122+1G=) c.1038+1G= (n.1038+1G=) | |
4 | g.664945G>T | CA355919830 | PDE6B | c.2193+1G>T (n.2193+1G>T) c.1356+1G>T (n.1356+1G>T) c.35+1G>T c.273+1G>T (n.273+1G>T) c.2412+1G>T (n.2412+1G>T) c.1398+1G>T (n.1398+1G>T) c.1122+1G>T (n.1122+1G>T) c.1038+1G>T (n.1038+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664946T>A | CA355919835 | PDE6B | c.2193+2T>A (n.2193+2T>A) c.1356+2T>A (n.1356+2T>A) c.35+2T>A c.273+2T>A (n.273+2T>A) c.2412+2T>A (n.2412+2T>A) c.1398+2T>A (n.1398+2T>A) c.1122+2T>A (n.1122+2T>A) c.1038+2T>A (n.1038+2T>A) | |
4 | g.664946T>C | CA355919832 | PDE6B | c.2193+2T>C (n.2193+2T>C) c.1356+2T>C (n.1356+2T>C) c.35+2T>C c.273+2T>C (n.273+2T>C) c.2412+2T>C (n.2412+2T>C) c.1398+2T>C (n.1398+2T>C) c.1122+2T>C (n.1122+2T>C) c.1038+2T>C (n.1038+2T>C) | |
4 | g.664946T>G | CA2794919 | PDE6B | c.2193+2T>G (n.2193+2T>G) c.1356+2T>G (n.1356+2T>G) c.35+2T>G c.273+2T>G (n.273+2T>G) c.2412+2T>G (n.2412+2T>G) c.1398+2T>G (n.1398+2T>G) c.1122+2T>G (n.1122+2T>G) c.1038+2T>G (n.1038+2T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664946T= | CA1432854366 | PDE6B | c.2193+2T= (n.2193+2T=) c.1356+2T= (n.1356+2T=) c.35+2T= c.273+2T= (n.273+2T=) c.2412+2T= (n.2412+2T=) c.1398+2T= (n.1398+2T=) c.1122+2T= (n.1122+2T=) c.1038+2T= (n.1038+2T=) | |
4 | g.664947T>C | CA1058414659 | PDE6B | c.2193+3T>C (n.2193+3T>C) c.1356+3T>C (n.1356+3T>C) c.35+3T>C c.273+3T>C (n.273+3T>C) c.2412+3T>C (n.2412+3T>C) c.1398+3T>C (n.1398+3T>C) c.1122+3T>C (n.1122+3T>C) c.1038+3T>C (n.1038+3T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664947T= | CA1432854370 | PDE6B | c.2193+3T= (n.2193+3T=) c.1356+3T= (n.1356+3T=) c.35+3T= c.273+3T= (n.273+3T=) c.2412+3T= (n.2412+3T=) c.1398+3T= (n.1398+3T=) c.1122+3T= (n.1122+3T=) c.1038+3T= (n.1038+3T=) | |
4 | g.664948A>G | CA2669420265 | PDE6B | c.2193+4A>G (n.2193+4A>G) c.1356+4A>G (n.1356+4A>G) c.35+4A>G c.273+4A>G (n.273+4A>G) c.2412+4A>G (n.2412+4A>G) c.1398+4A>G (n.1398+4A>G) c.1122+4A>G (n.1122+4A>G) c.1038+4A>G (n.1038+4A>G) | gnomAD v4 |
4 | g.664949G>A | CA2794920 | PDE6B | c.2193+5G>A (n.2193+5G>A) c.1356+5G>A (n.1356+5G>A) c.35+5G>A c.273+5G>A (n.273+5G>A) c.2412+5G>A (n.2412+5G>A) c.1398+5G>A (n.1398+5G>A) c.1122+5G>A (n.1122+5G>A) c.1038+5G>A (n.1038+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664949G>C | CA797562176 | PDE6B | c.2193+5G>C (n.2193+5G>C) c.1356+5G>C (n.1356+5G>C) c.35+5G>C c.273+5G>C (n.273+5G>C) c.2412+5G>C (n.2412+5G>C) c.1398+5G>C (n.1398+5G>C) c.1122+5G>C (n.1122+5G>C) c.1038+5G>C (n.1038+5G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664949G= | CA1432854375 | PDE6B | c.2193+5G= (n.2193+5G=) c.1356+5G= (n.1356+5G=) c.35+5G= c.273+5G= (n.273+5G=) c.2412+5G= (n.2412+5G=) c.1398+5G= (n.1398+5G=) c.1122+5G= (n.1122+5G=) c.1038+5G= (n.1038+5G=) | |
4 | g.664950A>C | CA2568969910 | PDE6B | c.2193+6A>C (n.2193+6A>C) c.1356+6A>C (n.1356+6A>C) c.35+6A>C c.273+6A>C (n.273+6A>C) c.2412+6A>C (n.2412+6A>C) c.1398+6A>C (n.1398+6A>C) c.1122+6A>C (n.1122+6A>C) c.1038+6A>C (n.1038+6A>C) | |
4 | g.664952C>A | CA2669420266 | PDE6B | c.2193+8C>A (n.2193+8C>A) c.1356+8C>A (n.1356+8C>A) c.35+8C>A c.273+8C>A (n.273+8C>A) c.2412+8C>A (n.2412+8C>A) c.1398+8C>A (n.1398+8C>A) c.1122+8C>A (n.1122+8C>A) c.1038+8C>A (n.1038+8C>A) | gnomAD v4 |
4 | g.664952C= | CA1432854380 | PDE6B | c.2193+8C= (n.2193+8C=) c.1356+8C= (n.1356+8C=) c.35+8C= c.273+8C= (n.273+8C=) c.2412+8C= (n.2412+8C=) c.1398+8C= (n.1398+8C=) c.1122+8C= (n.1122+8C=) c.1038+8C= (n.1038+8C=) | |
4 | g.664952C>G | CA2794921 | PDE6B | c.2193+8C>G (n.2193+8C>G) c.1356+8C>G (n.1356+8C>G) c.35+8C>G c.273+8C>G (n.273+8C>G) c.2412+8C>G (n.2412+8C>G) c.1398+8C>G (n.1398+8C>G) c.1122+8C>G (n.1122+8C>G) c.1038+8C>G (n.1038+8C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664952C>T | CA549126644 | PDE6B | c.2193+8C>T (n.2193+8C>T) c.1356+8C>T (n.1356+8C>T) c.35+8C>T c.273+8C>T (n.273+8C>T) c.2412+8C>T (n.2412+8C>T) c.1398+8C>T (n.1398+8C>T) c.1122+8C>T (n.1122+8C>T) c.1038+8C>T (n.1038+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664955_664956delinsAG | CA1432854386 | PDE6B | c.2193+11_2193+12delinsAG (n.2193+11_2193+12delinsAG) c.1356+11_1356+12delinsAG (n.1356+11_1356+12delinsAG) c.35+11_35+12delinsAG c.273+11_273+12delinsAG (n.273+11_273+12delinsAG) c.2412+11_2412+12delinsAG (n.2412+11_2412+12delinsAG) c.1398+11_1398+12delinsAG (n.1398+11_1398+12delinsAG) c.1122+11_1122+12delinsAG (n.1122+11_1122+12delinsAG) c.1038+11_1038+12delinsAG (n.1038+11_1038+12delinsAG) | |
4 | g.664956G>A | CA549126646 | PDE6B | c.2193+12G>A (n.2193+12G>A) c.1356+12G>A (n.1356+12G>A) c.35+12G>A c.273+12G>A (n.273+12G>A) c.2412+12G>A (n.2412+12G>A) c.1398+12G>A (n.1398+12G>A) c.1122+12G>A (n.1122+12G>A) c.1038+12G>A (n.1038+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664956G= | CA1432854388 | PDE6B | c.2193+12G= (n.2193+12G=) c.1356+12G= (n.1356+12G=) c.35+12G= c.273+12G= (n.273+12G=) c.2412+12G= (n.2412+12G=) c.1398+12G= (n.1398+12G=) c.1122+12G= (n.1122+12G=) c.1038+12G= (n.1038+12G=) | |
4 | g.664958del | CA2794922 | PDE6B | c.2193+14del (n.2193+14del) c.1356+14del (n.1356+14del) c.35+14del c.273+14del (n.273+14del) c.2412+14del (n.2412+14del) c.1398+14del (n.1398+14del) c.1122+14del (n.1122+14del) c.1038+14del (n.1038+14del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664957G>A | CA91092654 | PDE6B | c.2193+13G>A (n.2193+13G>A) c.1356+13G>A (n.1356+13G>A) c.35+13G>A c.273+13G>A (n.273+13G>A) c.2412+13G>A (n.2412+13G>A) c.1398+13G>A (n.1398+13G>A) c.1122+13G>A (n.1122+13G>A) c.1038+13G>A (n.1038+13G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664957G= | CA1432854393 | PDE6B | c.2193+13G= (n.2193+13G=) c.1356+13G= (n.1356+13G=) c.35+13G= c.273+13G= (n.273+13G=) c.2412+13G= (n.2412+13G=) c.1398+13G= (n.1398+13G=) c.1122+13G= (n.1122+13G=) c.1038+13G= (n.1038+13G=) | |
4 | g.664958G>A | CA2794923 | PDE6B | c.2193+14G>A (n.2193+14G>A) c.1356+14G>A (n.1356+14G>A) c.35+14G>A c.273+14G>A (n.273+14G>A) c.2412+14G>A (n.2412+14G>A) c.1398+14G>A (n.1398+14G>A) c.1122+14G>A (n.1122+14G>A) c.1038+14G>A (n.1038+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664958G= | CA1432854397 | PDE6B | c.2193+14G= (n.2193+14G=) c.1356+14G= (n.1356+14G=) c.35+14G= c.273+14G= (n.273+14G=) c.2412+14G= (n.2412+14G=) c.1398+14G= (n.1398+14G=) c.1122+14G= (n.1122+14G=) c.1038+14G= (n.1038+14G=) | |
4 | g.664958G>T | CA549126650 | PDE6B | c.2193+14G>T (n.2193+14G>T) c.1356+14G>T (n.1356+14G>T) c.35+14G>T c.273+14G>T (n.273+14G>T) c.2412+14G>T (n.2412+14G>T) c.1398+14G>T (n.1398+14G>T) c.1122+14G>T (n.1122+14G>T) c.1038+14G>T (n.1038+14G>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.664959C>A | CA2669420277 | PDE6B | c.2193+15C>A (n.2193+15C>A) c.1356+15C>A (n.1356+15C>A) c.35+15C>A c.273+15C>A (n.273+15C>A) c.2412+15C>A (n.2412+15C>A) c.1398+15C>A (n.1398+15C>A) c.1122+15C>A (n.1122+15C>A) c.1038+15C>A (n.1038+15C>A) | gnomAD v4 |
4 | g.664959C= | CA1432854403 | PDE6B | c.2193+15C= (n.2193+15C=) c.1356+15C= (n.1356+15C=) c.35+15C= c.273+15C= (n.273+15C=) c.2412+15C= (n.2412+15C=) c.1398+15C= (n.1398+15C=) c.1122+15C= (n.1122+15C=) c.1038+15C= (n.1038+15C=) | |
4 | g.664959C>G | CA2794925 | PDE6B | c.2193+15C>G (n.2193+15C>G) c.1356+15C>G (n.1356+15C>G) c.35+15C>G c.273+15C>G (n.273+15C>G) c.2412+15C>G (n.2412+15C>G) c.1398+15C>G (n.1398+15C>G) c.1122+15C>G (n.1122+15C>G) c.1038+15C>G (n.1038+15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664959C>T | CA2794924 | PDE6B | c.2193+15C>T (n.2193+15C>T) c.1356+15C>T (n.1356+15C>T) c.35+15C>T c.273+15C>T (n.273+15C>T) c.2412+15C>T (n.2412+15C>T) c.1398+15C>T (n.1398+15C>T) c.1122+15C>T (n.1122+15C>T) c.1038+15C>T (n.1038+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664960C>A | CA2794926 | PDE6B | c.2193+16C>A (n.2193+16C>A) c.1356+16C>A (n.1356+16C>A) c.35+16C>A c.273+16C>A (n.273+16C>A) c.2412+16C>A (n.2412+16C>A) c.1398+16C>A (n.1398+16C>A) c.1122+16C>A (n.1122+16C>A) c.1038+16C>A (n.1038+16C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664960C= | CA1432854414 | PDE6B | c.2193+16C= (n.2193+16C=) c.1356+16C= (n.1356+16C=) c.35+16C= c.273+16C= (n.273+16C=) c.2412+16C= (n.2412+16C=) c.1398+16C= (n.1398+16C=) c.1122+16C= (n.1122+16C=) c.1038+16C= (n.1038+16C=) | |
4 | g.664961C>A | CA2669420282 | PDE6B | c.2193+17C>A (n.2193+17C>A) c.1356+17C>A (n.1356+17C>A) c.35+17C>A c.273+17C>A (n.273+17C>A) c.2412+17C>A (n.2412+17C>A) c.1398+17C>A (n.1398+17C>A) c.1122+17C>A (n.1122+17C>A) c.1038+17C>A (n.1038+17C>A) | gnomAD v4 |
4 | g.664962T>C | CA549126656 | PDE6B | c.2193+18T>C (n.2193+18T>C) c.1356+18T>C (n.1356+18T>C) c.35+18T>C c.273+18T>C (n.273+18T>C) c.2412+18T>C (n.2412+18T>C) c.1398+18T>C (n.1398+18T>C) c.1122+18T>C (n.1122+18T>C) c.1038+18T>C (n.1038+18T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664962T= | CA1432854418 | PDE6B | c.2193+18T= (n.2193+18T=) c.1356+18T= (n.1356+18T=) c.35+18T= c.273+18T= (n.273+18T=) c.2412+18T= (n.2412+18T=) c.1398+18T= (n.1398+18T=) c.1122+18T= (n.1122+18T=) c.1038+18T= (n.1038+18T=) | |
4 | g.664963C= | CA1432854422 | PDE6B | c.2193+19C= (n.2193+19C=) c.1356+19C= (n.1356+19C=) c.35+19C= c.273+19C= (n.273+19C=) c.2412+19C= (n.2412+19C=) c.1398+19C= (n.1398+19C=) c.1122+19C= (n.1122+19C=) c.1038+19C= (n.1038+19C=) | |
4 | g.664963C>G | CA1432854421 | PDE6B | c.2193+19C>G (n.2193+19C>G) c.1356+19C>G (n.1356+19C>G) c.35+19C>G c.273+19C>G (n.273+19C>G) c.2412+19C>G (n.2412+19C>G) c.1398+19C>G (n.1398+19C>G) c.1122+19C>G (n.1122+19C>G) c.1038+19C>G (n.1038+19C>G) | dbSNP gnomAD v4 |
4 | g.664964del | CA2669420284 | PDE6B | c.2193+20del (n.2193+20del) c.1356+20del (n.1356+20del) c.35+20del c.273+20del (n.273+20del) c.2412+20del (n.2412+20del) c.1398+20del (n.1398+20del) c.1122+20del (n.1122+20del) c.1038+20del (n.1038+20del) | gnomAD v4 |
4 | g.664964C>A | CA2669420285 | PDE6B | c.2193+20C>A (n.2193+20C>A) c.1356+20C>A (n.1356+20C>A) c.35+20C>A c.273+20C>A (n.273+20C>A) c.2412+20C>A (n.2412+20C>A) c.1398+20C>A (n.1398+20C>A) c.1122+20C>A (n.1122+20C>A) c.1038+20C>A (n.1038+20C>A) | gnomAD v4 |
4 | g.664965A>C | CA2578009847 | PDE6B | c.2193+21A>C (n.2193+21A>C) c.1356+21A>C (n.1356+21A>C) c.35+21A>C c.273+21A>C (n.273+21A>C) c.2412+21A>C (n.2412+21A>C) c.1398+21A>C (n.1398+21A>C) c.1122+21A>C (n.1122+21A>C) c.1038+21A>C (n.1038+21A>C) | |
4 | g.664966G>A | CA91092659 | PDE6B | c.2193+22G>A (n.2193+22G>A) c.1356+22G>A (n.1356+22G>A) c.35+22G>A c.273+22G>A (n.273+22G>A) c.2412+22G>A (n.2412+22G>A) c.1398+22G>A (n.1398+22G>A) c.1122+22G>A (n.1122+22G>A) c.1038+22G>A (n.1038+22G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.664966G>C | CA2794927 | PDE6B | c.2193+22G>C (n.2193+22G>C) c.1356+22G>C (n.1356+22G>C) c.35+22G>C c.273+22G>C (n.273+22G>C) c.2412+22G>C (n.2412+22G>C) c.1398+22G>C (n.1398+22G>C) c.1122+22G>C (n.1122+22G>C) c.1038+22G>C (n.1038+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664966G= | CA1432854431 | PDE6B | c.2193+22G= (n.2193+22G=) c.1356+22G= (n.1356+22G=) c.35+22G= c.273+22G= (n.273+22G=) c.2412+22G= (n.2412+22G=) c.1398+22G= (n.1398+22G=) c.1122+22G= (n.1122+22G=) c.1038+22G= (n.1038+22G=) | |
4 | g.664966G>T | CA2669420286 | PDE6B | c.2193+22G>T (n.2193+22G>T) c.1356+22G>T (n.1356+22G>T) c.35+22G>T c.273+22G>T (n.273+22G>T) c.2412+22G>T (n.2412+22G>T) c.1398+22G>T (n.1398+22G>T) c.1122+22G>T (n.1122+22G>T) c.1038+22G>T (n.1038+22G>T) | gnomAD v4 |
4 | g.664967A= | CA1432854435 | PDE6B | c.2193+23A= (n.2193+23A=) c.1356+23A= (n.1356+23A=) c.35+23A= c.273+23A= (n.273+23A=) c.2412+23A= (n.2412+23A=) c.1398+23A= (n.1398+23A=) c.1122+23A= (n.1122+23A=) c.1038+23A= (n.1038+23A=) | |
4 | g.664967A>G | CA2794928 | PDE6B | c.2193+23A>G (n.2193+23A>G) c.1356+23A>G (n.1356+23A>G) c.35+23A>G c.273+23A>G (n.273+23A>G) c.2412+23A>G (n.2412+23A>G) c.1398+23A>G (n.1398+23A>G) c.1122+23A>G (n.1122+23A>G) c.1038+23A>G (n.1038+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664968C>A | CA2669420288 | PDE6B | c.2193+24C>A (n.2193+24C>A) c.1356+24C>A (n.1356+24C>A) c.35+24C>A c.273+24C>A (n.273+24C>A) c.2412+24C>A (n.2412+24C>A) c.1398+24C>A (n.1398+24C>A) c.1122+24C>A (n.1122+24C>A) c.1038+24C>A (n.1038+24C>A) | gnomAD v4 |
4 | g.664968C= | CA1432854440 | PDE6B | c.2193+24C= (n.2193+24C=) c.1356+24C= (n.1356+24C=) c.35+24C= c.273+24C= (n.273+24C=) c.2412+24C= (n.2412+24C=) c.1398+24C= (n.1398+24C=) c.1122+24C= (n.1122+24C=) c.1038+24C= (n.1038+24C=) | |
4 | g.664968C>G | CA1432854442 | PDE6B | c.2193+24C>G (n.2193+24C>G) c.1356+24C>G (n.1356+24C>G) c.35+24C>G c.273+24C>G (n.273+24C>G) c.2412+24C>G (n.2412+24C>G) c.1398+24C>G (n.1398+24C>G) c.1122+24C>G (n.1122+24C>G) c.1038+24C>G (n.1038+24C>G) | dbSNP |
4 | g.664968C>T | CA549126657 | PDE6B | c.2193+24C>T (n.2193+24C>T) c.1356+24C>T (n.1356+24C>T) c.35+24C>T c.273+24C>T (n.273+24C>T) c.2412+24C>T (n.2412+24C>T) c.1398+24C>T (n.1398+24C>T) c.1122+24C>T (n.1122+24C>T) c.1038+24C>T (n.1038+24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664970del | CA2578009849 | PDE6B | c.2193+26del (n.2193+26del) c.1356+26del (n.1356+26del) c.35+26del c.273+26del (n.273+26del) c.2412+26del (n.2412+26del) c.1398+26del (n.1398+26del) c.1122+26del (n.1122+26del) c.1038+26del (n.1038+26del) | gnomAD v4 |
4 | g.664969C>A | CA2578009851 | PDE6B | c.2193+25C>A (n.2193+25C>A) c.1356+25C>A (n.1356+25C>A) c.35+25C>A c.273+25C>A (n.273+25C>A) c.2412+25C>A (n.2412+25C>A) c.1398+25C>A (n.1398+25C>A) c.1122+25C>A (n.1122+25C>A) c.1038+25C>A (n.1038+25C>A) | gnomAD v4 |
4 | g.664969C>G | CA2669420293 | PDE6B | c.2193+25C>G (n.2193+25C>G) c.1356+25C>G (n.1356+25C>G) c.35+25C>G c.273+25C>G (n.273+25C>G) c.2412+25C>G (n.2412+25C>G) c.1398+25C>G (n.1398+25C>G) c.1122+25C>G (n.1122+25C>G) c.1038+25C>G (n.1038+25C>G) | gnomAD v4 |
4 | g.664969C>T | CA2578009852 | PDE6B | c.2193+25C>T (n.2193+25C>T) c.1356+25C>T (n.1356+25C>T) c.35+25C>T c.273+25C>T (n.273+25C>T) c.2412+25C>T (n.2412+25C>T) c.1398+25C>T (n.1398+25C>T) c.1122+25C>T (n.1122+25C>T) c.1038+25C>T (n.1038+25C>T) | |
4 | g.664970C>A | CA2578009854 | PDE6B | c.2193+26C>A (n.2193+26C>A) c.1356+26C>A (n.1356+26C>A) c.35+26C>A c.273+26C>A (n.273+26C>A) c.2412+26C>A (n.2412+26C>A) c.1398+26C>A (n.1398+26C>A) c.1122+26C>A (n.1122+26C>A) c.1038+26C>A (n.1038+26C>A) | gnomAD v4 |
4 | g.664970C>G | CA2669420297 | PDE6B | c.2193+26C>G (n.2193+26C>G) c.1356+26C>G (n.1356+26C>G) c.35+26C>G c.273+26C>G (n.273+26C>G) c.2412+26C>G (n.2412+26C>G) c.1398+26C>G (n.1398+26C>G) c.1122+26C>G (n.1122+26C>G) c.1038+26C>G (n.1038+26C>G) | gnomAD v4 |
4 | g.664970C>T | CA2669420298 | PDE6B | c.2193+26C>T (n.2193+26C>T) c.1356+26C>T (n.1356+26C>T) c.35+26C>T c.273+26C>T (n.273+26C>T) c.2412+26C>T (n.2412+26C>T) c.1398+26C>T (n.1398+26C>T) c.1122+26C>T (n.1122+26C>T) c.1038+26C>T (n.1038+26C>T) | gnomAD v4 |
4 | g.664971A= | CA1432854447 | PDE6B | c.2193+27A= (n.2193+27A=) c.1356+27A= (n.1356+27A=) c.35+27A= c.273+27A= (n.273+27A=) c.2412+27A= (n.2412+27A=) c.1398+27A= (n.1398+27A=) c.1122+27A= (n.1122+27A=) c.1038+27A= (n.1038+27A=) | |
4 | g.664971A>G | CA1432854446 | PDE6B | c.2193+27A>G (n.2193+27A>G) c.1356+27A>G (n.1356+27A>G) c.35+27A>G c.273+27A>G (n.273+27A>G) c.2412+27A>G (n.2412+27A>G) c.1398+27A>G (n.1398+27A>G) c.1122+27A>G (n.1122+27A>G) c.1038+27A>G (n.1038+27A>G) | dbSNP gnomAD v4 |
4 | g.664973A>G | CA2669420301 | PDE6B | c.2193+29A>G (n.2193+29A>G) c.1356+29A>G (n.1356+29A>G) c.35+29A>G c.273+29A>G (n.273+29A>G) c.2412+29A>G (n.2412+29A>G) c.1398+29A>G (n.1398+29A>G) c.1122+29A>G (n.1122+29A>G) c.1038+29A>G (n.1038+29A>G) | gnomAD v4 |
4 | g.664974G>A | CA2794929 | PDE6B | c.2193+30G>A (n.2193+30G>A) c.1356+30G>A (n.1356+30G>A) c.35+30G>A c.273+30G>A (n.273+30G>A) c.2412+30G>A (n.2412+30G>A) c.1398+30G>A (n.1398+30G>A) c.1122+30G>A (n.1122+30G>A) c.1038+30G>A (n.1038+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664974G= | CA1432854449 | PDE6B | c.2193+30G= (n.2193+30G=) c.1356+30G= (n.1356+30G=) c.35+30G= c.273+30G= (n.273+30G=) c.2412+30G= (n.2412+30G=) c.1398+30G= (n.1398+30G=) c.1122+30G= (n.1122+30G=) c.1038+30G= (n.1038+30G=) | |
4 | g.664976C>A | CA2669420308 | PDE6B | c.2193+32C>A (n.2193+32C>A) c.1356+32C>A (n.1356+32C>A) c.35+32C>A c.273+32C>A (n.273+32C>A) c.2412+32C>A (n.2412+32C>A) c.1398+32C>A (n.1398+32C>A) c.1122+32C>A (n.1122+32C>A) c.1038+32C>A (n.1038+32C>A) | gnomAD v4 |
4 | g.664976C= | CA1432854456 | PDE6B | c.2193+32C= (n.2193+32C=) c.1356+32C= (n.1356+32C=) c.35+32C= c.273+32C= (n.273+32C=) c.2412+32C= (n.2412+32C=) c.1398+32C= (n.1398+32C=) c.1122+32C= (n.1122+32C=) c.1038+32C= (n.1038+32C=) | |
4 | g.664976C>G | CA549126658 | PDE6B | c.2193+32C>G (n.2193+32C>G) c.1356+32C>G (n.1356+32C>G) c.35+32C>G c.273+32C>G (n.273+32C>G) c.2412+32C>G (n.2412+32C>G) c.1398+32C>G (n.1398+32C>G) c.1122+32C>G (n.1122+32C>G) c.1038+32C>G (n.1038+32C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664976C>T | CA2794930 | PDE6B | c.2193+32C>T (n.2193+32C>T) c.1356+32C>T (n.1356+32C>T) c.35+32C>T c.273+32C>T (n.273+32C>T) c.2412+32C>T (n.2412+32C>T) c.1398+32C>T (n.1398+32C>T) c.1122+32C>T (n.1122+32C>T) c.1038+32C>T (n.1038+32C>T) | dbSNP ExAC |
4 | g.664977A= | CA1432854460 | PDE6B | c.2193+33A= (n.2193+33A=) c.1356+33A= (n.1356+33A=) c.35+33A= c.273+33A= (n.273+33A=) c.2412+33A= (n.2412+33A=) c.1398+33A= (n.1398+33A=) c.1122+33A= (n.1122+33A=) c.1038+33A= (n.1038+33A=) | |
4 | g.664977A>G | CA2794931 | PDE6B | c.2193+33A>G (n.2193+33A>G) c.1356+33A>G (n.1356+33A>G) c.35+33A>G c.273+33A>G (n.273+33A>G) c.2412+33A>G (n.2412+33A>G) c.1398+33A>G (n.1398+33A>G) c.1122+33A>G (n.1122+33A>G) c.1038+33A>G (n.1038+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.664978G>A | CA2760111979 | PDE6B | c.2193+34G>A (n.2193+34G>A) c.1356+34G>A (n.1356+34G>A) c.35+34G>A c.273+34G>A (n.273+34G>A) c.2412+34G>A (n.2412+34G>A) c.1398+34G>A (n.1398+34G>A) c.1122+34G>A (n.1122+34G>A) c.1038+34G>A (n.1038+34G>A) | |
4 | g.664978G>C | CA549126661 | PDE6B | c.2193+34G>C (n.2193+34G>C) c.1356+34G>C (n.1356+34G>C) c.35+34G>C c.273+34G>C (n.273+34G>C) c.2412+34G>C (n.2412+34G>C) c.1398+34G>C (n.1398+34G>C) c.1122+34G>C (n.1122+34G>C) c.1038+34G>C (n.1038+34G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.664978G= | CA1432854463 | PDE6B | c.2193+34G= (n.2193+34G=) c.1356+34G= (n.1356+34G=) c.35+34G= c.273+34G= (n.273+34G=) c.2412+34G= (n.2412+34G=) c.1398+34G= (n.1398+34G=) c.1122+34G= (n.1122+34G=) c.1038+34G= (n.1038+34G=) | |
4 | g.664978G>T | CA1432854469 | PDE6B | c.2193+34G>T (n.2193+34G>T) c.1356+34G>T (n.1356+34G>T) c.35+34G>T c.273+34G>T (n.273+34G>T) c.2412+34G>T (n.2412+34G>T) c.1398+34G>T (n.1398+34G>T) c.1122+34G>T (n.1122+34G>T) c.1038+34G>T (n.1038+34G>T) | dbSNP gnomAD v4 |
4 | g.664979T>A | CA2578009855 | PDE6B | c.2193+35T>A (n.2193+35T>A) c.1356+35T>A (n.1356+35T>A) c.35+35T>A c.273+35T>A (n.273+35T>A) c.2412+35T>A (n.2412+35T>A) c.1398+35T>A (n.1398+35T>A) c.1122+35T>A (n.1122+35T>A) c.1038+35T>A (n.1038+35T>A) | gnomAD v4 |
4 | g.664979T>C | CA2578009856 | PDE6B | c.2193+35T>C (n.2193+35T>C) c.1356+35T>C (n.1356+35T>C) c.35+35T>C c.273+35T>C (n.273+35T>C) c.2412+35T>C (n.2412+35T>C) c.1398+35T>C (n.1398+35T>C) c.1122+35T>C (n.1122+35T>C) c.1038+35T>C (n.1038+35T>C) | gnomAD v4 |
4 | g.664979T>G | CA2669420318 | PDE6B | c.2193+35T>G (n.2193+35T>G) c.1356+35T>G (n.1356+35T>G) c.35+35T>G c.273+35T>G (n.273+35T>G) c.2412+35T>G (n.2412+35T>G) c.1398+35T>G (n.1398+35T>G) c.1122+35T>G (n.1122+35T>G) c.1038+35T>G (n.1038+35T>G) | gnomAD v4 |